-
1
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
DOI 10.1038/ng0793-221
-
Orr H, Chung M-y, Banfi S, Kwiatkowski Jr TJ, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nat Genet. 1993;4:221-6. (Pubitemid 23205168)
-
(1993)
Nature Genetics
, vol.4
, Issue.3
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
2
-
-
79958072622
-
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study
-
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, et al. The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. Neurology. 2011;77:1035-41.
-
(2011)
Neurology
, vol.77
, pp. 1035-1041
-
-
Jacobi, H.1
Bauer, P.2
Giunti, P.3
Labrum, R.4
Sweeney, M.G.5
Charles, P.6
-
3
-
-
65849214780
-
Magnetic resonance imaging in spinocerebellar ataxias
-
Dohlinger S, Hauser TK, Borkert J, Luft AR, Schulz JB. Magnetic resonance imaging in spinocerebellar ataxias. Cerebellum. 2008;7: 204-14.
-
(2008)
Cerebellum
, vol.7
, pp. 204-214
-
-
Dohlinger, S.1
Hauser, T.K.2
Borkert, J.3
Luft, A.R.4
Schulz, J.B.5
-
4
-
-
84874913811
-
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6
-
Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, et al. Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. Brain. 2013;136:905-17.
-
(2013)
Brain
, vol.136
, pp. 905-917
-
-
Reetz, K.1
Costa, A.S.2
Mirzazade, S.3
Lehmann, A.4
Juzek, A.5
Rakowicz, M.6
-
5
-
-
17844389364
-
The wide spectrum of spinocerebellar ataxias (SCAs)
-
Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum. 2005;4:2-6.
-
(2005)
Cerebellum
, vol.4
, pp. 2-6
-
-
Manto, M.U.1
-
6
-
-
70349962976
-
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6
-
Schulz JB, Borkert J, Wolf S, Schmitz-Hubsch T, Rakowicz M, Mariotti C, et al. Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage. 2010;49:158-68.
-
(2010)
Neuroimage
, vol.49
, pp. 158-168
-
-
Schulz, J.B.1
Borkert, J.2
Wolf, S.3
Schmitz-Hubsch, T.4
Rakowicz, M.5
Mariotti, C.6
-
7
-
-
84864713198
-
Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3)
-
Scherzed W, Brunt ER, Heinsen H, de Vos RA, Seidel K, Burk K., et al. Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Cerebellum. 2012; 11: 749-60.
-
(2012)
Cerebellum
, vol.11
, pp. 749-760
-
-
Scherzed, W.1
Brunt, E.R.2
Heinsen, H.3
De Vos, R.A.4
Seidel, K.5
Burk, K.6
-
8
-
-
33845794522
-
A Morphologically Conserved Nonapoptotic Program Promotes Linker Cell Death in Caenorhabditis elegans
-
DOI 10.1016/j.devcel.2006.11.012, PII S153458070600517X
-
Abraham MC, Lu Y, Shaham S. A morphologically conserved nonapoptotic program promotes linker cell death in Caenorhabditis elegans . Dev Cell. 2007;12:73-86. (Pubitemid 46002599)
-
(2007)
Developmental Cell
, vol.12
, Issue.1
, pp. 73-86
-
-
Abraham, M.C.1
Lu, Y.2
Shaham, S.3
-
9
-
-
78649901091
-
Alternative cell death mechanisms in development and beyond
-
Yuan J, Kroemer G. Alternative cell death mechanisms in development and beyond. Genes Dev. 2010;24:2592-602.
-
(2010)
Genes Dev
, vol.24
, pp. 2592-2602
-
-
Yuan, J.1
Kroemer, G.2
-
10
-
-
67651183756
-
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2
-
Liu J, Tang TS, Tu H, Nelson O, Herndon E, Huynh DP, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci. 2009;29:9148-62.
-
(2009)
J Neurosci
, vol.29
, pp. 9148-9162
-
-
Liu, J.1
Tang, T.S.2
Tu, H.3
Nelson, O.4
Herndon, E.5
Huynh, D.P.6
-
11
-
-
58149375272
-
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3
-
Chen X, Tang TS, Tu H, Nelson O, Pook M, Hammer R, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci. 2008;28:12713-24.
-
(2008)
J Neurosci
, vol.28
, pp. 12713-12724
-
-
Chen, X.1
Tang, T.S.2
Tu, H.3
Nelson, O.4
Pook, M.5
Hammer, R.6
-
12
-
-
33749010065
-
Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport
-
DOI 10.1038/nn1750, PII NN1750
-
Custer SK, Garden GA, Gill N, Rueb U, Libby RT, Schultz C, et al. Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. Nat Neurosci. 2006;9:1302-11. (Pubitemid 44454272)
-
(2006)
Nature Neuroscience
, vol.9
, Issue.10
, pp. 1302-1311
-
-
Custer, S.K.1
Garden, G.A.2
Gill, N.3
Rueb, U.4
Libby, R.T.5
Schultz, C.6
Guyenet, S.J.7
Deller, T.8
Westrum, L.E.9
Sopher, B.L.10
La, S.A.R.11
-
13
-
-
67651154308
-
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration
-
Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G. Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration. J Neurosci. 2009;29:9244-54.
-
(2009)
J Neurosci
, vol.29
, pp. 9244-9254
-
-
Maltecca, F.1
Magnoni, R.2
Cerri, F.3
Cox, G.A.4
Quattrini, A.5
Casari, G.6
-
14
-
-
0035399637
-
Programmed cell death of developing mammalian neurons after genetic deletion of caspases
-
Oppenheim RW, Flavell RA, Vinsant S, Prevette D, Kuan CY, Rakic P. Programmed cell death of developing mammalian neurons after genetic deletion of caspases. J Neurosci. 2001;21:4752-60. (Pubitemid 32565633)
-
(2001)
Journal of Neuroscience
, vol.21
, Issue.13
, pp. 4752-4760
-
-
Oppenheim, R.W.1
Flavell, R.A.2
Vinsant, S.3
Prevette, D.4
Kuan, C.-Y.5
Rakic, P.6
-
15
-
-
84863230093
-
Control of nonapoptotic developmental cell death in Caenorhabditis elegans by a polyglutamine-repeat protein
-
Blum ES, AbrahamMC, Yoshimura S, Lu Y, Shaham S. Control of nonapoptotic developmental cell death in Caenorhabditis elegans by a polyglutamine-repeat protein. Science. 2012;335:970-3.
-
(2012)
Science
, vol.335
, pp. 970-973
-
-
Blum, E.S.1
Abraham, M.C.2
Yoshimura, S.3
Lu, Y.4
Shaham, S.5
-
16
-
-
84883541737
-
PolyQ disease: Misfiring of a developmental cell death program?
-
Blum ES, Schwendeman AR, Shaham S. PolyQ disease: misfiring of a developmental cell death program? Trends Cell Biol. 2013;23:168-74.
-
(2013)
Trends Cell Biol
, vol.23
, pp. 168-174
-
-
Blum, E.S.1
Schwendeman, A.R.2
Shaham, S.3
-
17
-
-
84861943506
-
Cell biology of spinocerebellar ataxia
-
Orr HT. Cell biology of spinocerebellar ataxia. J Cell Biol. 2012;197:167-77.
-
(2012)
J Cell Biol
, vol.197
, pp. 167-177
-
-
Orr, H.T.1
-
18
-
-
69249122087
-
Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death
-
Chakrabarti L, Eng J, Ivanov N, Garden GA, La Spada AR. Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death. Mol Brain. 2009;2:24.
-
(2009)
Mol Brain
, vol.2
, pp. 24
-
-
Chakrabarti, L.1
Eng, J.2
Ivanov, N.3
Garden, G.A.4
La Spada, A.R.5
-
19
-
-
10744230059
-
AMPA-induced dark cell degeneration of cerebellar Purkinje neurons involves activation of caspases and apparent mitochondrial dysfunction
-
DOI 10.1016/j.brainres.2003.09.048
-
Strahlendorf J, Box C, Attridge J, Diertien J, Finckbone V, Henne WM, et al. AMPA-induced dark cell degeneration of cerebellar Purkinje neurons involves activation of caspases and apparent mitochondrial dysfunction. Brain Res. 2003;994:146-59. (Pubitemid 37464878)
-
(2003)
Brain Research
, vol.994
, Issue.2
, pp. 146-159
-
-
Strahlendorf, J.1
Box, C.2
Attridge, J.3
Diertien, J.4
Finckbone, V.5
Henne, W.M.6
Medina, M.S.7
Miles, R.8
Oomman, S.9
Schneider, M.10
Singh, H.11
Veliyaparabil, M.12
Strahlendorf, H.13
-
20
-
-
0034937247
-
Hypoxia induces an excitotoxic-type of dark cell degeneration in cerebellar Purkinje neurons
-
DOI 10.1016/S0168-0102(01)00234-6, PII S0168010201002346
-
Barenberg P, Strahlendorf H, Strahlendorf J. Hypoxia induces an excitotoxic-type of dark cell degeneration in cerebellar Purkinje neurons. Neurosci Res. 2001;40:245-54. (Pubitemid 32633837)
-
(2001)
Neuroscience Research
, vol.40
, Issue.3
, pp. 245-254
-
-
Barenberg, P.1
Strahlendorf, H.2
Strahlendorf, J.3
-
21
-
-
84856282307
-
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias
-
Kasumu A, Bezprozvanny I. Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. Cerebellum. 2012;11:630-9.
-
(2012)
Cerebellum
, vol.11
, pp. 630-639
-
-
Kasumu, A.1
Bezprozvanny, I.2
-
22
-
-
84868015420
-
Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2
-
Kasumu AW, Hougaard C, Rode F, Jacobsen TA, Sabatier JM, Eriksen BL, et al. Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2. Chem Biol. 2012;19:1340-53.
-
(2012)
Chem Biol
, vol.19
, pp. 1340-1353
-
-
Kasumu, A.W.1
Hougaard, C.2
Rode, F.3
Jacobsen, T.A.4
Sabatier, J.M.5
Eriksen, B.L.6
-
23
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
Matilla-Dueñas A, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006;129:1357-70.
-
(2006)
Brain
, vol.129
, pp. 1357-1370
-
-
Matilla-Dueñas, A.1
Goold, R.2
Giunti, P.3
-
24
-
-
77955636420
-
Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
-
Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9:885-94.
-
(2010)
Lancet Neurol
, vol.9
, pp. 885-894
-
-
Durr, A.1
-
25
-
-
36448930958
-
Polyglutamine domain modulates the TBP-TFIIB interaction: Implications for its normal function and neurodegeneration
-
DOI 10.1038/nn2011, PII NN2011
-
FriedmanMJ, Shah AG, Fang ZH,Ward EG,Warren ST, Li S, et al. Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration. Nat Neurosci. 2007;10:1519-28. (Pubitemid 350175880)
-
(2007)
Nature Neuroscience
, vol.10
, Issue.12
, pp. 1519-1528
-
-
Friedman, M.J.1
Shah, A.G.2
Fang, Z.-H.3
Ward, E.G.4
Warren, S.T.5
Li, S.6
Li, X.-J.7
-
26
-
-
34548452053
-
Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1
-
DOI 10.1093/hmg/ddm162
-
Goold R, Hubank M, Hunt A, Holton J, Menon RP, Revesz T, et al. Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1. Hum Mol Genet. 2007;16:2122-34. (Pubitemid 47354895)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.17
, pp. 2122-2134
-
-
Goold, R.1
Hubank, M.2
Hunt, A.3
Holton, J.4
Menon, R.P.5
Revesz, T.6
Pandolfo, M.7
Matilla-Duenas, A.8
-
27
-
-
77957360461
-
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis
-
Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010;6: e1001021.
-
(2010)
PLoS Genet
, vol.6
-
-
Crespo-Barreto, J.1
Fryer, J.D.2
Shaw, C.A.3
Orr, H.T.4
Zoghbi, H.Y.5
-
28
-
-
77955480316
-
Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias
-
Matilla-Dueñas A, Sanchez I, Corral-Juan M, Davalos A, Alvarez R, Latorre P. Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias. Cerebellum. 2010;9: 148-66.
-
(2010)
Cerebellum
, vol.9
, pp. 148-166
-
-
Matilla-Dueñas, A.1
Sanchez, I.2
Corral-Juan, M.3
Davalos, A.4
Alvarez, R.5
Latorre, P.6
-
29
-
-
77955286022
-
Nuclear ataxias
-
Spring Harb Perspect Biol
-
Orr HT. Nuclear ataxias. Cold Spring Harb Perspect Biol. 2010;2: a000786.
-
(2010)
Cold
, vol.2
-
-
Orr, H.T.1
-
30
-
-
84870464151
-
The ever expanding spinocerebellar ataxias. Editorial
-
Matilla-Dueñas A. The ever expanding spinocerebellar ataxias. Editorial. Cerebellum. 2012;11:821-7.
-
(2012)
Cerebellum
, vol.11
, pp. 821-827
-
-
Matilla-Dueñas, A.1
-
31
-
-
84881576566
-
A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1
-
Sanchez I, Piñol P, Corral-Juan M, Pandolfo M, Matilla-Dueñas A. A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1. Hum Mol Genet. 2013;22:3425-37.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 3425-3437
-
-
Sanchez, I.1
Piñol, P.2
Corral-Juan, M.3
Pandolfo, M.4
Matilla-Dueñas, A.5
-
32
-
-
78650101277
-
Histone acetylation, acetyltransferases, and ataxia-alteration of histone acetylation and chromatin dynamics is implicated in the pathogenesis of polyglutamine-expansion disorders
-
McCullough SD, Grant PA. Histone acetylation, acetyltransferases, and ataxia-alteration of histone acetylation and chromatin dynamics is implicated in the pathogenesis of polyglutamine-expansion disorders. Adv Protein Chem Struct Biol. 2010;79:165-203.
-
(2010)
Adv Protein Chem Struct Biol
, vol.79
, pp. 165-203
-
-
McCullough, S.D.1
Grant, P.A.2
-
34
-
-
65849214710
-
Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1
-
Matilla-Dueñas A, Goold R, Giunti P. Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1. Cerebellum. 2008;7:106-14.
-
(2008)
Cerebellum
, vol.7
, pp. 106-114
-
-
Matilla-Dueñas, A.1
Goold, R.2
Giunti, P.3
-
35
-
-
0030915681
-
Positionally cloned human disease genes: Patterns of evolutionary conservation and functional motifs
-
Mushegian AR, Bassett Jr DE, Boguski MS, Bork P, Koonin EV. Positionally cloned human disease genes: patterns of evolutionary conservation and functional motifs. Proc Natl Acad Sci U S A. 1997;94:5831-6
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 5831-5836
-
-
Mushegian, A.R.1
Bassett Jr., D.E.2
Boguski, M.S.3
Bork, P.4
Koonin, E.V.5
-
36
-
-
0142039037
-
The AXH module: An independently folded domain common to ataxin-1 and HBP1
-
de Chiara C, Giannini C, Adinolfi S, de Boer J, Guida S, Ramos A, et al. The AXH module: an independently folded domain common to ataxin-1 and HBP1. FEBS Lett. 2003;551:107-12.
-
(2003)
FEBS Lett
, vol.551
, pp. 107-112
-
-
De Chiara, C.1
Giannini, C.2
Adinolfi, S.3
De Boer, J.4
Guida, S.5
Et Al, R.A.6
-
37
-
-
0942276360
-
The structure of the AXH domain of spinocerebellar ataxin-1
-
Chen YW, Allen MD, Veprintsev DB, Lowe J, Bycroft M. The structure of the AXH domain of spinocerebellar ataxin-1. J Biol Chem. 2004;279:3758-65
-
(2004)
J Biol Chem
, vol.279
, pp. 3758-3765
-
-
Chen, Y.W.1
Allen, M.D.2
Veprintsev, D.B.3
Lowe, J.4
Bycroft, M.5
-
38
-
-
18944394158
-
The AXH domain adopts alternative folds the solution structure of HBP1 AXH
-
Camb
-
de Chiara C, Menon RP, Adinolfi S, de Boer J, Ktistaki E, Kelly G, et al. The AXH domain adopts alternative folds the solution structure of HBP1 AXH. Structure (Camb). 2005;13:743-53.
-
(2005)
Structure
, vol.13
, pp. 743-753
-
-
De Chiara, C.1
Menon, R.P.2
Adinolfi, S.3
De Boer, J.4
Ktistaki, E.5
Kelly, G.6
-
39
-
-
0035168621
-
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract
-
Yue S, Serra HG, Zoghbi HY, Orr HT. The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum Mol Genet. 2001;10:25-30. (Pubitemid 32051564)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.1
, pp. 25-30
-
-
Yue, S.1
Serra, H.G.2
Zoghbi, H.Y.3
Orr, H.T.4
-
40
-
-
33646687963
-
A Protein-Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration
-
DOI 10.1016/j.cell.2006.03.032, PII S0092867406004399
-
Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, et al. A protein- protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006;125:801-14. (Pubitemid 43732348)
-
(2006)
Cell
, vol.125
, Issue.4
, pp. 801-814
-
-
Lim, J.1
Hao, T.2
Shaw, C.3
Patel, A.J.4
Szabo, G.5
Rual, J.-F.6
Fisk, C.J.7
Li, N.8
Smolyar, A.9
Hill, D.E.10
Barabasi, A.-L.11
Vidal, M.12
Zoghbi, H.Y.13
-
41
-
-
0030716768
-
The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1
-
DOI 10.1038/40159
-
Matilla A, Koshy BT, Cummings CJ, Isobe T, Orr HT, Zoghbi HY. The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 1997;389:974-8. (Pubitemid 27485689)
-
(1997)
Nature
, vol.389
, Issue.6654
, pp. 974-978
-
-
Matilla, A.1
Koshy, B.T.2
Cummings, C.J.3
Isobe, T.4
Orr, H.T.5
Zoghbi, H.Y.6
-
42
-
-
33847290297
-
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes
-
DOI 10.1038/ng1977, PII NG1977
-
Bowman AB, Lam YC, Jafar-Nejad P, Chen HK, Richman R, Samaco RC, et al. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007;39:373-9. (Pubitemid 46328494)
-
(2007)
Nature Genetics
, vol.39
, Issue.3
, pp. 373-379
-
-
Bowman, A.B.1
Lam, Y.C.2
Jafar-Nejad, P.3
Chen, H.-K.4
Richman, R.5
Samaco, R.C.6
Fryer, J.D.7
Kahle, J.J.8
Orr, H.T.9
Zoghbi, H.Y.10
-
43
-
-
79955544001
-
Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway
-
Tong X, Gui H, Jin F, Heck BW, Lin P, Ma J, et al. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. EMBO Rep. 2011;12:428-35.
-
(2011)
EMBO Rep
, vol.12
, pp. 428-435
-
-
Tong, X.1
Gui, H.2
Jin, F.3
Heck, B.W.4
Lin, P.5
Ma, J.6
-
44
-
-
33845657872
-
ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology
-
DOI 10.1016/j.cell.2006.11.038, PII S0092867406015431
-
Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, et al. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006;127:1335-47. (Pubitemid 44960413)
-
(2006)
Cell
, vol.127
, Issue.7
, pp. 1335-1347
-
-
Lam, Y.C.1
Bowman, A.B.2
Jafar-Nejad, P.3
Lim, J.4
Richman, R.5
Fryer, J.D.6
Hyun, E.D.7
Duvick, L.A.8
Orr, H.T.9
Botas, J.10
Zoghbi, H.Y.11
-
45
-
-
23944438950
-
The AXH domain of ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
-
Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, RoseMF, et al. The AXH domain of ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 2005;122:633 - 44.
-
(2005)
Cell
, vol.122
, pp. 633-644
-
-
Tsuda, H.1
Jafar-Nejad, H.2
Patel, A.J.3
Sun, Y.4
Chen, H.K.5
Rose, M.F.6
-
46
-
-
1642447764
-
Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors
-
DOI 10.1073/pnas.0400615101
-
Tsai CC, Kao HY, Mitzutani A, Banayo E, Rajan H, McKeown M, et al. Ataxin 1, a SCA1 neurodegenerative disorder protein, is functionally linked to the silencing mediator of retinoid and thyroid hormone receptors. Proc Natl Acad Sci U S A. 2004;101:4047-52. (Pubitemid 38405881)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.12
, pp. 4047-4052
-
-
Tsai, C.-C.1
Kao, H.-Y.2
Mitzutani, A.3
Banayo, E.4
Rajan, H.5
McKeown, M.6
Evans, R.M.7
-
47
-
-
18444403420
-
Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death
-
DOI 10.1016/S0896-6273(02)00697-9
-
Okazawa H, Rich T, Chang A, Lin X, Waragai M, Kajikawa M, et al. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron. 2002;34:701-13. (Pubitemid 34628734)
-
(2002)
Neuron
, vol.34
, Issue.5
, pp. 701-713
-
-
Okazawa, H.1
Rich, T.2
Chang, A.3
Lin, X.4
Waragai, M.5
Kajikawa, M.6
Enokido, Y.7
Komuro, A.8
Kato, S.9
Shibata, M.10
Hatanaka, H.11
Mouradian, M.M.12
Sudol, M.13
Kanazawa, I.14
-
48
-
-
33750815242
-
RORalpha-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice
-
DOI 10.1016/j.cell.2006.09.036, PII S0092867406012967
-
Serra HG, Duvick L, Zu T, Carlson K, Stevens S, Jorgensen N, et al. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell. 2006;127:697-708. (Pubitemid 44716252)
-
(2006)
Cell
, vol.127
, Issue.4
, pp. 697-708
-
-
Serra, H.G.1
Duvick, L.2
Zu, T.3
Carlson, K.4
Stevens, S.5
Jorgensen, N.6
Lysholm, A.7
Burright, E.8
Zoghbi, H.Y.9
Clark, H.B.10
Andresen, J.M.11
Orr, H.T.12
-
49
-
-
42049086100
-
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
-
Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, et al. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008;452: 713-8
-
(2008)
Nature
, vol.452
, pp. 713-718
-
-
Lim, J.1
Crespo-Barreto, J.2
Jafar-Nejad, P.3
Bowman, A.B.4
Richman, R.5
Hill, D.E.6
-
50
-
-
77649185172
-
Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors
-
de Chiara C, Menon RP, Strom M, Gibson TJ, Pastore A. Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors. PLoS One. 2009;4:e8372.
-
(2009)
PLoS One
, vol.4
-
-
De Chiara, C.1
Menon, R.P.2
Strom, M.3
Gibson, T.J.4
Pastore, A.5
-
51
-
-
0034597833
-
Identification of genes that modify ataxin-1-induced neurodegeneration
-
Fernandez-Funez P, Nino-Rosales ML, de Gouyon B, She WC, Luchak JM, Martinez P, et al. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature. 2000;408:101-6.
-
(2000)
Nature
, vol.408
, pp. 101-106
-
-
Fernandez-Funez, P.1
Nino-Rosales, M.L.2
De Gouyon, B.3
She, W.C.4
Luchak, J.M.5
Martinez, P.6
-
52
-
-
25144468986
-
Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1
-
DOI 10.1038/sj.emboj.7600785, PII 7600785
-
Mizutani A, Wang L, Rajan H, Vig PJ, Alaynick WA, Thaler JP, et al. Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. EMBO J. 2005;24:3339-51. (Pubitemid 41348707)
-
(2005)
EMBO Journal
, vol.24
, Issue.18
, pp. 3339-3351
-
-
Mizutani, A.1
Wang, L.2
Rajan, H.3
Vig, P.J.S.4
Alaynick, W.A.5
Thaler, J.P.6
Tsai, C.-C.7
-
53
-
-
79956017557
-
Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model
-
Gehrking KM, Andresen JM, Duvick L, Lough J, Zoghbi HY, Orr HT. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet. 2011;20:2204-12.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2204-2212
-
-
Gehrking, K.M.1
Andresen, J.M.2
Duvick, L.3
Lough, J.4
Zoghbi, H.Y.5
Orr, H.T.6
-
54
-
-
19544374135
-
Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice
-
DOI 10.1093/hmg/ddh268
-
Serra HG, Byam CE, Lande JD, Tousey SK, Zoghbi HY, Orr HT. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet. 2004;13: 2535-43. (Pubitemid 39377856)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.20
, pp. 2535-2543
-
-
Serra, H.G.1
Byam, C.E.2
Lande, J.D.3
Tousey, S.K.4
Zoghbi, H.Y.5
Orr, H.T.6
-
55
-
-
17844366846
-
WNTs in the vertebrate nervous system: From patterning to neuronal connectivity
-
Ciani L, Salinas PC. WNTs in the vertebrate nervous system: from patterning to neuronal connectivity. Nat Rev Neurosci. 2005;6:351 - 62.
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 351-362
-
-
Ciani, L.1
Salinas, P.C.2
-
57
-
-
80555125089
-
Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua
-
Fryer JD, Yu P, Kang H, Mandel-Brehm C, Carter AN, Crespo-Barreto J, et al. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011;334:690-3.
-
(2011)
Science
, vol.334
, pp. 690-693
-
-
Fryer, J.D.1
Yu, P.2
Kang, H.3
Mandel-Brehm, C.4
Carter, A.N.5
Crespo-Barreto, J.6
-
58
-
-
12344317072
-
An integrative approach to gain insights into the cellular function of human ataxin-2
-
DOI 10.1016/j.jmb.2004.11.024, PII S0022283604014639
-
Ralser M, Albrecht M, Nonhoff U, Lengauer T, Lehrach H, Krobitsch S. An integrative approach to gain insights into the cellular function of human ataxin-2. J Mol Biol. 2005;346:203-14. (Pubitemid 40128315)
-
(2005)
Journal of Molecular Biology
, vol.346
, Issue.1
, pp. 203-214
-
-
Ralser, M.1
Albrecht, M.2
Nonhoff, U.3
Lengauer, T.4
Lehrach, H.5
Krobitsch, S.6
-
59
-
-
49549111127
-
Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking
-
Nonis D, Schmidt MH, van de Loo S, Eich F, Dikic I, Nowock J, et al. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell Signal. 2008;20:1725-39.
-
(2008)
Cell Signal
, vol.20
, pp. 1725-1739
-
-
Nonis, D.1
Schmidt, M.H.2
Van De Loo, S.3
Eich, F.4
Dikic, I.5
Nowock, J.6
-
61
-
-
33747884761
-
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes
-
DOI 10.1093/hmg/ddl173
-
Satterfield TF, Pallanck LJ. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet. 2006;15:2523-32. (Pubitemid 44288704)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.16
, pp. 2523-2532
-
-
Satterfield, T.F.1
Pallanck, L.J.2
-
62
-
-
79956301405
-
The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2
-
Hallen L, Klein H, Stoschek C, Wehrmeyer S, Nonhoff U, Ralser M, et al. The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2. Hum Mol Genet. 2011;20:104 - 14.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 104-114
-
-
Hallen, L.1
Klein, H.2
Stoschek, C.3
Wehrmeyer, S.4
Nonhoff, U.5
Ralser, M.6
-
63
-
-
0346274978
-
KRAB-containing zinc-finger repressor proteins
-
Urrutia R. KRAB-containing zinc-finger repressor proteins. Genome Biol. 2003;4:231.
-
(2003)
Genome Biol
, vol.4
, pp. 231
-
-
Urrutia, R.1
-
64
-
-
0033818112
-
Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription
-
Shimohata T, Nakajima T, Yamada M, Uchida C, Onodera O, Naruse S, et al. Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription. Nat Genet. 2000;26:29-36.
-
(2000)
Nat Genet
, vol.26
, pp. 29-36
-
-
Shimohata, T.1
Nakajima, T.2
Yamada, M.3
Uchida, C.4
Onodera, O.5
Naruse, S.6
-
65
-
-
0035060505
-
Recruitment of nonexpanded polyglutamine proteins to intranuclear aggregates in neuronal intranuclear hyaline inclusion disease
-
Takahashi J, Tanaka J, Arai K, Funata N, Hattori T, Fukuda T, et al. Recruitment of nonexpanded polyglutamine proteins to intranuclear aggregates in neuronal intranuclear hyaline inclusion disease. J Neuropathol Exp Neurol. 2001;60:369-76. (Pubitemid 32274052)
-
(2001)
Journal of Neuropathology and Experimental Neurology
, vol.60
, Issue.4
, pp. 369-376
-
-
Takahashi, J.1
Tanaka, J.2
Arai, K.3
Funata, N.4
Hattori, T.5
Fukuda, T.6
Fujigasaki, H.7
Uchihara, T.8
-
66
-
-
0034285017
-
CREB-binding protein sequestration by expanded polyglutamine
-
McCampbell A, Taylor JP, Taye AA, Robitschek J, LiM,Walcott J, et al. CREB-binding protein sequestration by expanded polyglutamine. Hum Mol Genet. 2000;9:2197-202.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2197-2202
-
-
McCampbell, A.1
Taylor, J.P.2
Taye, A.A.3
Robitschek, J.4
Li, M.5
Walcott, J.6
-
67
-
-
0037047123
-
Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis
-
DOI 10.1073/pnas.152101299
-
Chai Y, Shao J, Miller VM, Williams A, Paulson HL. Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestrationmodel of pathogenesis. Proc Natl Acad Sci U S A. 2002;99:9310-5. (Pubitemid 34764610)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.14
, pp. 9310-9315
-
-
Chai, Y.1
Shao, J.2
Miller, V.M.3
Williams, A.4
Paulson, H.L.5
-
68
-
-
0033867992
-
Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B
-
Wang G, Sawai N, Kotliarova S, Kanazawa I, Nukina N. Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B. Hum Mol Genet. 2000;9:1795-803. (Pubitemid 30608613)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.12
, pp. 1795-1803
-
-
Wang, G.-H.1
Sawai, N.2
Kotliarova, S.3
Kanazawa, I.4
Nukina, N.5
-
69
-
-
33750962224
-
Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation
-
DOI 10.1523/JNEUROSCI.2053-06.2006
-
Evert BO, Araujo J, Vieira-Saecker AM, de Vos RA, Harendza S, Klockgether T, et al. Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation. J Neurosci. 2006;26:11474-86. (Pubitemid 44772178)
-
(2006)
Journal of Neuroscience
, vol.26
, Issue.44
, pp. 11474-11486
-
-
Evert, B.O.1
Araujo, J.2
Vieira-Saecker, A.M.3
De Vos, R.A.I.4
Harendza, S.5
Klockgether, T.6
Wullner, U.7
-
70
-
-
84860660444
-
Toward understanding Machado- Joseph disease
-
Costa Mdo C, Paulson HL. Toward understanding Machado- Joseph disease. Prog Neurobiol. 2012;97:239-57.
-
(2012)
Prog Neurobiol
, vol.97
, pp. 239-257
-
-
Costa Mdo, C.1
Paulson, H.L.2
-
71
-
-
0141891166
-
Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3
-
Evert BO, Vogt IR, Vieira-Saecker AM, Ozimek L, de Vos RA, Brunt ER, et al. Gene expression profiling in ataxin-3 expressing cell lines reveals distinct effects of normal and mutant ataxin-3. J Neuropathol Exp Neurol. 2003;62:1006-18. (Pubitemid 37229531)
-
(2003)
Journal of Neuropathology and Experimental Neurology
, vol.62
, Issue.10
, pp. 1006-1018
-
-
Evert, B.O.1
Vogt, I.R.2
Vieira-Saecker, A.M.3
Ozimek, L.4
De Vos, R.A.I.5
Brunt, E.R.P.6
Klockgether, T.7
Wullner, U.8
-
72
-
-
79960118539
-
FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3
-
Araujo J, Breuer P, Dieringer S, Krauss S, Dorn S, Zimmermann K, et al. FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3. Hum Mol Genet. 2011;20:2928-41.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2928-2941
-
-
Araujo, J.1
Breuer, P.2
Dieringer, S.3
Krauss, S.4
Dorn, S.5
Zimmermann, K.6
-
73
-
-
33144469085
-
Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction
-
Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmüller A, et al. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol. 2006;4:e67.
-
(2006)
PLoS Biol
, vol.4
-
-
Helmlinger, D.1
Hardy, S.2
Abou-Sleymane, G.3
Eberlin, A.4
Bowman, A.B.5
Gansmüller, A.6
-
75
-
-
84855396268
-
Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model
-
Chen YC, Gatchel JR, Lewis RW, Mao CA, Grant PA, Zoghbi HY, et al. Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Hum Mol Genet. 2011;21:394 - 405.
-
(2011)
Hum Mol Genet
, vol.21
, pp. 394-405
-
-
Chen, Y.C.1
Gatchel, J.R.2
Lewis, R.W.3
Mao, C.A.4
Grant, P.A.5
Zoghbi, H.Y.6
-
76
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
-
DOI 10.1093/hmg/8.11.2047
-
Koide R, Kobayashi S, Shimohata T, Ikeuchi T,Maruyama M, Saito M, et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet. 1999;8:2047-53. (Pubitemid 29458732)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.11
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
Yamada, M.7
Takahashi, H.8
Tsuji, S.9
-
77
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, et al. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet. 2001;10:1441-8. (Pubitemid 32684885)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.14
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.-Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.-I.7
Tsuji, S.8
Kanazawa, I.9
-
78
-
-
64149121709
-
Induction of heat shock proteins for protection against oxidative stress
-
Kalmar B, Greensmith L. Induction of heat shock proteins for protection against oxidative stress. Adv Drug Deliv Rev. 2009;61: 310-8.
-
(2009)
Adv Drug Deliv Rev
, vol.61
, pp. 310-318
-
-
Kalmar, B.1
Greensmith, L.2
-
79
-
-
52049093169
-
Polyglutamine neurodegeneration: Protein misfolding revisited
-
Williams AJ, Paulson HL. Polyglutamine neurodegeneration: protein misfolding revisited. Trends Neurosci. 2008;31:521-8.
-
(2008)
Trends Neurosci
, vol.31
, pp. 521-528
-
-
Williams, A.J.1
Paulson, H.L.2
-
80
-
-
77949901096
-
Heat shock proteins as suppressors of accumulation of toxic prefibrillar intermediates and misfolded proteins in neurodegenerative diseases
-
Arawaka S, Machiya Y, Kato T. Heat shock proteins as suppressors of accumulation of toxic prefibrillar intermediates and misfolded proteins in neurodegenerative diseases. Curr Pharm Biotechnol. 2010;11:158-66.
-
(2010)
Curr Pharm Biotechnol
, vol.11
, pp. 158-166
-
-
Arawaka, S.1
Machiya, Y.2
Kato, T.3
-
81
-
-
77949877628
-
Heat shock proteins: Therapeutic drug targets for chronic neurodegeneration?
-
Sajjad MU, Samson B, Wyttenbach A. Heat shock proteins: therapeutic drug targets for chronic neurodegeneration? Curr Pharm Biotechnol. 2010;11:198-215.
-
(2010)
Curr Pharm Biotechnol
, vol.11
, pp. 198-215
-
-
Sajjad, M.U.1
Samson, B.2
Wyttenbach, A.3
-
82
-
-
0030698635
-
Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis
-
Gautier T, Berges T, Tollervey D, Hurt E. Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis. Mol Cell Biol. 1997;17:7088-98. (Pubitemid 27505938)
-
(1997)
Molecular and Cellular Biology
, vol.17
, Issue.12
, pp. 7088-7098
-
-
Gautier, T.1
Berges, T.2
Tollervey, D.3
Hurt, E.4
-
83
-
-
80051549115
-
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
-
Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, et al. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet. 2011;89: 121-30.
-
(2011)
Am J Hum Genet
, vol.89
, pp. 121-130
-
-
Kobayashi, H.1
Abe, K.2
Matsuura, T.3
Ikeda, Y.4
Hitomi, T.5
Akechi, Y.6
-
84
-
-
0037059609
-
Drosophila Atrophin homolog functions as a transcriptional corepressor in multiple developmental processes
-
DOI 10.1016/S0092-8674(01)00630-4
-
Zhang S, Xu L, Lee J, Xu T. Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Cell. 2002;108:45-56. (Pubitemid 34137011)
-
(2002)
Cell
, vol.108
, Issue.1
, pp. 45-56
-
-
Zhang, S.1
Xu, L.2
Lee, J.3
Xu, T.4
-
85
-
-
33644771241
-
Histone deacetylase-associating Atrophin proteins are nuclear receptor corepressors
-
DOI 10.1101/gad.1393506
-
Wang L, Rajan H, Pitman JL, McKeown M, Tsai CC. Histone deacetylase-associating atrophin proteins are nuclear receptor core-pressors. Genes Dev. 2006;20:525-30. (Pubitemid 43345318)
-
(2006)
Genes and Development
, vol.20
, Issue.5
, pp. 525-530
-
-
Wang, L.1
Rajan, H.2
Pitman, J.L.3
McKeown, M.4
Tsai, C.-C.5
-
86
-
-
33947541570
-
Functional architecture of atrophins
-
DOI 10.1074/jbc.M610274200
-
Shen Y, Lee G, Choe Y, Zoltewicz JS, Peterson AS. Functional architecture of atrophins. J Biol Chem. 2007;282:5037-44. (Pubitemid 47100924)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.7
, pp. 5037-5044
-
-
Shen, Y.1
Lee, G.2
Choe, Y.3
Zoltewicz, J.S.4
Peterson, A.S.5
-
87
-
-
59049084255
-
Atrophin proteins: An overview of a new class of nuclear receptor corepressors
-
Wang L, Tsai CC. Atrophin proteins: an overview of a new class of nuclear receptor corepressors. Nucl Recept Signal. 2008;6:e009.
-
(2008)
Nucl Recept Signal
, vol.6
-
-
Wang, L.1
Tsai, C.C.2
-
88
-
-
0034605071
-
Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription
-
Wood JD, Nucifora Jr FC, Duan K, Zhang C,Wang J, Kim Y, et al. Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription. J Cell Biol. 2000;150:939-48.
-
(2000)
J Cell Biol
, vol.150
, pp. 939-948
-
-
Wood, J.D.1
Nucifora Jr., F.C.2
Duan, K.3
Zhang, C.4
Wang, J.5
Kim, Y.6
-
89
-
-
79952283224
-
Polyglutamine atrophin provokes neurodegeneration in Drosophila by repressing fat
-
Napoletano F, Occhi S, Calamita P, Volpi V, Blanc E, Charroux B, et al. Polyglutamine atrophin provokes neurodegeneration in Drosophila by repressing fat. EMBO J. 2011;30:945-58.
-
(2011)
EMBO J
, vol.30
, pp. 945-958
-
-
Napoletano, F.1
Occhi, S.2
Calamita, P.3
Volpi, V.4
Blanc, E.5
Charroux, B.6
-
90
-
-
0033995175
-
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
-
DOI 10.1038/72101
-
Lin X, Antalffy B, Kang D, Orr HT, Zoghbi HY. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci. 2000;3:157-63. (Pubitemid 30126331)
-
(2000)
Nature Neuroscience
, vol.3
, Issue.2
, pp. 157-163
-
-
Lin, X.1
Antalffy, B.2
Kang, D.3
Orr, H.T.4
Zoghbi, H.Y.5
-
91
-
-
79958190232
-
Activity-dependent calcium signaling and ERK-MAP kinases in neurons: A link to structural plasticity of the nucleus and gene transcription regulation
-
Wiegert JS, Bading H. Activity-dependent calcium signaling and ERK-MAP kinases in neurons: a link to structural plasticity of the nucleus and gene transcription regulation. Cell Calcium. 2011;49: 296-305.
-
(2011)
Cell Calcium
, vol.49
, pp. 296-305
-
-
Wiegert, J.S.1
Bading, H.2
-
92
-
-
33845609985
-
A new role for microRNA pathways: Modulation of degeneration induced by pathogenic human disease proteins
-
Bilen J, Liu N, Bonini NM. A new role for microRNA pathways: modulation of degeneration induced by pathogenic human disease proteins. Cell Cycle. 2006;5:2835-8. (Pubitemid 44953931)
-
(2006)
Cell Cycle
, vol.5
, Issue.24
, pp. 2835-2838
-
-
Bilen, J.1
Liu, N.2
Bonini, N.M.3
-
93
-
-
34848927455
-
The Conserved microRNA MiR-8 Tunes Atrophin Levels to Prevent Neurodegeneration in Drosophila
-
DOI 10.1016/j.cell.2007.09.020, PII S0092867407012081
-
Karres JS, Hilgers V, Carrera I, Treisman J, Cohen SM. The conserved microRNA miR-8 tunes atrophin levels to prevent neurodegeneration in Drosophila . Cell. 2007;131:136-45. (Pubitemid 47498538)
-
(2007)
Cell
, vol.131
, Issue.1
, pp. 136-145
-
-
Karres, J.S.1
Hilgers, V.2
Carrera, I.3
Treisman, J.4
Cohen, S.M.5
-
94
-
-
52949137369
-
miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis
-
Lee Y, Samaco RC, Gatchel JR, Thaller C, Orr HT, Zoghbi HY. miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci. 2008;11: 1137-9.
-
(2008)
Nat Neurosci
, vol.11
, pp. 1137-1139
-
-
Lee, Y.1
Samaco, R.C.2
Gatchel, J.R.3
Thaller, C.4
Orr, H.T.5
Zoghbi, H.Y.6
-
95
-
-
80053648859
-
Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis
-
Persengiev S, Kondova I, Otting N, Koeppen AH, Bontrop RE. Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis. Neurobiol Aging. 2011;32(2316):e17-27.
-
(2011)
Neurobiol Aging
, vol.32
, Issue.2316
-
-
Persengiev, S.1
Kondova, I.2
Otting, N.3
Koeppen, A.H.4
Bontrop, R.E.5
-
96
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFigliaM, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, et al. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science. 1997;277:1990-3.
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.O.3
Davies, S.W.4
Bates, G.P.5
Vonsattel, J.P.6
-
97
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
DOI 10.1016/S0896-6273(00)80943-5
-
Paulson HL, Perez MK, Trottier Y, Trojanowski JQ, Subramony SH, Das SS, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron. 1997;19:333-44. (Pubitemid 27374232)
-
(1997)
Neuron
, vol.19
, Issue.2
, pp. 333-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
Trojanowski, J.Q.4
Subramony, S.H.5
Das, S.S.6
Vig, P.7
Mandel, J.-L.8
Fischbeck, K.H.9
Pittman, R.N.10
-
98
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix- associated structures
-
DOI 10.1038/40153
-
Skinner PJ, Koshy BT, Cummings CJ, Klement IA, Helin K, Servadio A, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 1997;389:971-4. (Pubitemid 27485688)
-
(1997)
Nature
, vol.389
, Issue.6654
, pp. 971-974
-
-
Skinner, P.J.1
Koshy, B.T.2
Cummings, C.J.3
Klement, I.A.4
Helin, K.5
Servadio, A.6
Zoghbi, H.Y.7
Orr, H.T.8
-
99
-
-
0031918640
-
Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: Correlation between the density of inclusions and IT15 CAG triplet repeat length
-
DOI 10.1006/nbdi.1998.0168
-
Becher MW, Kotzuk JA, Sharp AH, Davies SW, Bates GP, Price DL, et al. Intranuclear neuronal inclusions in Huntington's disease and dentatorubral and pallidoluysian atrophy: correlation between the density of inclusions and IT15 CAG triplet repeat length. Neurobiol Dis. 1998;4:387-97. (Pubitemid 28201657)
-
(1998)
Neurobiology of Disease
, vol.4
, Issue.6
, pp. 387-397
-
-
Becher, M.W.1
Kotzuk, J.A.2
Sharp, A.H.3
Davies, S.W.4
Bates, G.P.5
Price, D.L.6
Ross, C.A.7
-
100
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with neuronal intranuclear inclusions
-
DOI 10.1093/hmg/7.5.913
-
Holmberg M, Duyckaerts C, Durr A, Cancel G, Gourfinkel-An I, Damier P, et al. Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet. 1998;7:913-8. (Pubitemid 28221256)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.5
, pp. 913-918
-
-
Holmberg, M.1
Duyckaerts, C.2
Durr, A.3
Cancel, G.4
Gourfinkel-An, I.5
Damier, P.6
Faucheux, B.7
Trottier, Y.8
Hirsch, E.C.9
Agid, Y.10
Brice, A.11
-
101
-
-
15144342225
-
Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy
-
DOI 10.1002/ana.410440216
-
Li M, Miwa S, Kobayashi Y, Merry DE, Yamamoto M, Tanaka F, et al. Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy. Ann Neurol. 1998;44:249-54. (Pubitemid 28374114)
-
(1998)
Annals of Neurology
, vol.44
, Issue.2
, pp. 249-254
-
-
Li, M.1
Miwa, S.2
Kobayashi, Y.3
Merry, D.E.4
Yamamoto, M.5
Tanaka, F.6
Doyu, M.7
Hashizume, Y.8
Fischbeck, K.H.9
Sobue, G.10
-
102
-
-
7344234800
-
An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients
-
Schmidt T, Landwehrmeyer GB, Schmitt I, Trottier Y, Auburger G, Laccone F, et al. An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol. 1998;8:669-79. (Pubitemid 28460926)
-
(1998)
Brain Pathology
, vol.8
, Issue.4
, pp. 669-679
-
-
Schmidt, T.1
Bernhard, L.G.2
Schmitt, I.3
Trottier, Y.4
Auburger, G.5
Laccone, F.6
Klockgether, T.7
Volpel, M.8
Epplen, J.T.9
Schols, L.10
Riess, O.11
-
103
-
-
0033044001
-
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
-
DOI 10.1002/1531-8249(199902)45:2<232::AID-ANA14
-
Huynh DP, Del Bigio MR, Ho DH, Pulst SM. Expression of ataxin- 2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol. 1999;45:232-41. (Pubitemid 29072370)
-
(1999)
Annals of Neurology
, vol.45
, Issue.2
, pp. 232-241
-
-
Huynh, D.P.1
Del, B.M.R.2
Ho, D.H.3
Pulst, S.-M.4
-
104
-
-
0032840052
-
Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: Triple-labeling immunofluorescent study
-
DOI 10.1016/S0304-3940(99)00656-4, PII S0304394099006564
-
Koyano S, Uchihara T, Fujigasaki H, Nakamura A, Yagishita S, Iwabuchi K. Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study. Neurosci Lett. 1999;273:117-20. (Pubitemid 29428121)
-
(1999)
Neuroscience Letters
, vol.273
, Issue.2
, pp. 117-120
-
-
Koyano, S.1
Uchihara, T.2
Fujigasaki, H.3
Nakamura, A.4
Yagishita, S.5
Iwabuchi, K.6
-
105
-
-
0032769095
-
Abundant expression and cytoplasmic aggregations of alpha1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
-
DOI 10.1093/hmg/8.7.1185
-
Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, et al. Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet. 1999;8:1185-93. (Pubitemid 29328986)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.7
, pp. 1185-1193
-
-
Ishikawa, K.1
Fujigasaki, H.2
Saegusa, H.3
Ohwada, K.4
Fujita, T.5
Iwamoto, H.6
Komatsuzaki, Y.7
Toru, S.8
Toriyama, H.9
Watanabe, M.10
Ohkoshi, N.11
Shoji, S.12
Kanazawa, I.13
Tanabe, T.14
Mizusawa, H.15
-
106
-
-
84863986711
-
Propagation of the prion phenomenon: Beyond the seeding principle
-
Munch C, Bertolotti A. Propagation of the prion phenomenon: beyond the seeding principle. J Mol Biol. 2012;421:491-8.
-
(2012)
J Mol Biol
, vol.421
, pp. 491-498
-
-
Munch, C.1
Bertolotti, A.2
-
107
-
-
84868148328
-
Neuron-to-neuron transmission of alpha-synuclein fibrils through axonal transport
-
Freundt EC, Maynard N, Clancy EK, Roy S, Bousset L, Sourigues Y, et al. Neuron-to-neuron transmission of alpha-synuclein fibrils through axonal transport. Ann Neurol. 2012;72:517-24.
-
(2012)
Ann Neurol
, vol.72
, pp. 517-524
-
-
Freundt, E.C.1
Maynard, N.2
Clancy, E.K.3
Roy, S.4
Bousset, L.5
Sourigues, Y.6
-
108
-
-
0036850529
-
Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells
-
Yang W, Dunlap JR, Andrews RB, Wetzel R. Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells. Hum Mol Genet. 2002;11:2905-17.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2905-2917
-
-
Yang, W.1
Dunlap, J.R.2
Andrews, R.B.3
Wetzel, R.4
-
109
-
-
59649095699
-
Cytoplasmic penetration and persistent infection ofmammalian cells by polyglutamine aggregates
-
Ren PH, Lauckner JE, Kachirskaia I, Heuser JE, Melki R, Kopito RR. Cytoplasmic penetration and persistent infection ofmammalian cells by polyglutamine aggregates. Nat Cell Biol. 2009;11:219-25.
-
(2009)
Nat Cell Biol
, vol.11
, pp. 219-225
-
-
Ren, P.H.1
Lauckner, J.E.2
Kachirskaia, I.3
Heuser, J.E.4
Melki, R.5
Kopito, R.R.6
-
110
-
-
70149112363
-
RNA gain-of-function in spinocerebellar ataxia type 8
-
Daughters RS, Tuttle DL, GaoW, Ikeda Y, MoseleyML, Ebner TJ, et al. RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet. 2009;5:e1000600.
-
(2009)
PLoS Genet
, vol.5
-
-
Daughters, R.S.1
Tuttle, D.L.2
Gao, W.3
Ikeda, Y.4
Moseley, M.L.5
Ebner, T.J.6
-
111
-
-
84861899904
-
Brain pathology of spinocerebellar ataxias
-
Seidel K, Siswanto S, Brunt ER, den Dunnen W, Korf HW, Rub U. Brain pathology of spinocerebellar ataxias. Acta Neuropathol. 2012;124:1-21.
-
(2012)
Acta Neuropathol
, vol.124
, pp. 1-21
-
-
Seidel, K.1
Siswanto, S.2
Brunt, E.R.3
Den Dunnen, W.4
Korf, H.W.5
Rub, U.6
-
112
-
-
36549023424
-
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
-
DOI 10.1038/ng.2007.43, PII NG200743
-
Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, et al.Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007;39:1434-6. (Pubitemid 350191351)
-
(2007)
Nature Genetics
, vol.39
, Issue.12
, pp. 1434-1436
-
-
Houlden, H.1
Johnson, J.2
Gardner-Thorpe, C.3
Lashley, T.4
Hernandez, D.5
Worth, P.6
Singleton, A.B.7
Hilton, D.A.8
Holton, J.9
Revesz, T.10
Davis, M.B.11
Giunti, P.12
Wood, N.W.13
-
113
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
DOI 10.1073/pnas.91.12.5355
-
Perutz MF, Johnson T, Suzuki M, Finch JT. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc Natl Acad Sci U S A. 1994;91:5355-8. (Pubitemid 24174325)
-
(1994)
Proceedings of the National Academy of Sciences of the United States of America
, vol.91
, Issue.12
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
114
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
DOI 10.1038/ng0696-196
-
Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo.Nat Genet. 1996;13:196-202. (Pubitemid 26000440)
-
(1996)
Nature Genetics
, vol.13
, Issue.2
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
115
-
-
0031056685
-
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
-
DOI 10.1038/ng0297-197
-
Mangiarini L, Sathasivam K, Mahal A, Mott R, Seller M, Bates GP. Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat Genet. 1997;15:197-200. (Pubitemid 27061643)
-
(1997)
Nature Genetics
, vol.15
, Issue.2
, pp. 197-200
-
-
Mangiarini, L.1
Sathasivam, K.2
Mahal, A.3
Mott, R.4
Seller, M.5
Bates, G.P.6
-
116
-
-
0038039288
-
Polyglutamine protein aggregation and toxicity are linked to the cellular stress response
-
Cowan KJ, Diamond MI, Welch WJ. Polyglutamine protein aggregation and toxicity are linked to the cellular stress response. Hum Mol Genet. 2003;12:1377-91. (Pubitemid 36758451)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.12
, pp. 1377-1391
-
-
Cowan, K.J.1
Diamond, M.I.2
Welch, W.J.3
-
117
-
-
0034329159
-
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
-
Gusella JF, MacDonald ME. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat Rev Neurosci. 2000;1:109-15.
-
(2000)
Nat Rev Neurosci
, vol.1
, pp. 109-115
-
-
Gusella, J.F.1
MacDonald, M.E.2
-
118
-
-
0033037919
-
Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein
-
DOI 10.1006/exnr.1998.7005
-
Sieradzan KA, Mechan AO, Jones L, Wanker EE, Nukina N, Mann DM. Huntington's disease intranuclear inclusions contain truncated, ubiquitinated huntingtin protein. Exp Neurol. 1999;156:92-9. (Pubitemid 29152986)
-
(1999)
Experimental Neurology
, vol.156
, Issue.1
, pp. 92-99
-
-
Sieradzan, K.A.1
Mechan, A.O.2
Jones, L.3
Wanker, E.E.4
Nukina, N.5
Mann, D.M.A.6
-
119
-
-
0037096365
-
Polyglutamine-Expanded Ataxin-7 Promotes Non-Cell-Autonomous Purkinje Cell Degeneration and Displays Proteolytic Cleavage in Ataxic Transgenic Mice
-
Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, et al. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous Purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci. 2002;22:4897-905. (Pubitemid 37465605)
-
(2002)
Journal of Neuroscience
, vol.22
, Issue.12
, pp. 4897-4905
-
-
Garden, G.A.1
Libby, R.T.2
Fu, Y.-H.3
Kinoshita, Y.4
Huang, J.5
Possin, D.E.6
Smith, A.C.7
Martinez, R.A.8
Fine, G.C.9
Grote, S.K.10
Ware, C.B.11
Einum, D.D.12
Morrison, R.S.13
Ptacek, L.J.14
Sopher, B.L.15
La, S.A.R.16
-
120
-
-
20844462057
-
A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration
-
DOI 10.1523/JNEUROSCI.2734-04.2004
-
Goti D, Katzen SM, Mez J, Kurtis N, Kiluk J, Ben-Haiem L, et al. A mutant ataxin-3 putative-cleavage fragment in brains of Machado- Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J Neurosci. 2004;24:10266-79. (Pubitemid 39492054)
-
(2004)
Journal of Neuroscience
, vol.24
, Issue.45
, pp. 10266-10279
-
-
Goti, D.1
Katzen, S.M.2
Mez, J.3
Kurtis, N.4
Kiluk, J.5
Ben-Haiem, L.6
Jenkins, N.A.7
Copeland, N.G.8
Kakizuka, A.9
Sharp, A.H.10
Ross, C.A.11
Mouton, P.R.12
Colomer, V.13
-
121
-
-
0032502715
-
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract
-
DOI 10.1074/jbc.273.15.9158
-
Wellington CL, Ellerby LM, Hackam AS, Margolis RL, Trifiro MA, Singaraja R, et al. Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem. 1998;273:9158-67. (Pubitemid 28176206)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.15
, pp. 9158-9167
-
-
Wellington, C.L.1
Ellerby, L.M.2
Hackam, A.S.3
Margolis, R.L.4
Trifiro, M.A.5
Singaraja, R.6
McCutcheon, K.7
Salvesen, G.S.8
Propp, S.S.9
Bromm, M.10
Rowland, K.J.11
Zhang, T.12
Rasper, D.13
Roy, S.14
Thornberry, N.15
Pinsky, L.16
Kakizuka, A.17
Ross, C.A.18
Nicholson, D.W.19
Bredesen, D.E.20
Hayden, M.R.21
more..
-
122
-
-
33745003424
-
Cleavage at the Caspase-6 Site Is Required for Neuronal Dysfunction and Degeneration Due to Mutant Huntingtin
-
DOI 10.1016/j.cell.2006.04.026, PII S0092867406005587
-
Graham RK, Deng Y, Slow EJ, Haigh B, Bissada N, Lu G, et al. Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin. Cell. 2006;125: 1179-91. (Pubitemid 43866195)
-
(2006)
Cell
, vol.125
, Issue.6
, pp. 1179-1191
-
-
Graham, R.K.1
Deng, Y.2
Slow, E.J.3
Haigh, B.4
Bissada, N.5
Lu, G.6
Pearson, J.7
Shehadeh, J.8
Bertram, L.9
Murphy, Z.10
Warby, S.C.11
Doty, C.N.12
Roy, S.13
Wellington, C.L.14
Leavitt, B.R.15
Raymond, L.A.16
Nicholson, D.W.17
Hayden, M.R.18
-
123
-
-
34547129609
-
Calpain inhibition is sufficient to suppress aggregation of polyglutamine-expanded ataxin-3
-
DOI 10.1074/jbc.M611914200
-
Haacke A, Hartl FU, Breuer P. Calpain inhibition is sufficient to suppress aggregation of polyglutamine-expanded ataxin-3. J Biol Chem. 2007;282:18851-6. (Pubitemid 47100145)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.26
, pp. 18851-18856
-
-
Haacke, A.1
Hartl, F.U.2
Breuer, P.3
-
124
-
-
35648964788
-
Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation
-
DOI 10.1074/jbc.M705265200
-
Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, et al. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. J Biol Chem. 2007;282: 30150-60. (Pubitemid 350035251)
-
(2007)
Journal of Biological Chemistry
, vol.282
, Issue.41
, pp. 30150-30160
-
-
Young, J.E.1
Gouw, L.2
Propp, S.3
Sopher, B.L.4
Taylor, J.5
Lin, A.6
Hermel, E.7
Logvinova, A.8
Chen, S.F.9
Chen, S.10
Bredesen, D.E.11
Truant, R.12
Ptacek, L.J.13
La, S.A.R.14
Ellerby, L.M.15
-
125
-
-
84872416147
-
Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)
-
Hubener J,Weber JJ, Richter C, Honold L,Weiss A,Murad F, et al. Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3). Hum Mol Genet. 2013;22: 508-18.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 508-518
-
-
Hubener, J.1
Weber, J.J.2
Richter, C.3
Honold, L.4
Weiss, A.5
Murad, F.6
-
126
-
-
84864658791
-
Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease
-
Simoes AT, Goncalves N, Koeppen A, Deglon N, Kugler S, Duarte CB, et al. Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease. Brain. 2012;135: 2428-39.
-
(2012)
Brain
, vol.135
, pp. 2428-2439
-
-
Simoes, A.T.1
Goncalves, N.2
Koeppen, A.3
Deglon, N.4
Kugler, S.5
Duarte, C.B.6
-
127
-
-
8544260320
-
Characterization of the structure and the amyloidogenic properties of the Josephin domain of the polyglutamine-containing protein ataxin-3
-
DOI 10.1016/j.jmb.2004.09.065, PII S0022283604012239
-
Masino L, Nicastro G, Menon RP, Dal Piaz F, Calder L, Pastore A. Characterization of the structure and the amyloidogenic properties of the Josephin domain of the polyglutamine-containing protein ataxin-3. J Mol Biol. 2004;344:1021-35. (Pubitemid 39491247)
-
(2004)
Journal of Molecular Biology
, vol.344
, Issue.4
, pp. 1021-1035
-
-
Masino, L.1
Nicastro, G.2
Menon, R.P.3
Piaz, F.D.4
Calder, L.5
Pastore, A.6
-
128
-
-
33745195252
-
The two-stage pathway of ataxin-3 fibrillogenesis involves a polyglutamine-independent step
-
Ellisdon AM, Thomas B, Bottomley SP. The two-stage pathway of ataxin-3 fibrillogenesis involves a polyglutamine-independent step. J Biol Chem. 2006;281:16888-96.
-
(2006)
J Biol Chem
, vol.281
, pp. 16888-16896
-
-
Ellisdon, A.M.1
Thomas, B.2
Bottomley, S.P.3
-
129
-
-
79959694745
-
N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation
-
Hubener J, Vauti F, Funke C, Wolburg H, Ye Y, Schmidt T, et al. N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation. Brain. 2011;134:1925-42.
-
(2011)
Brain
, vol.134
, pp. 1925-1942
-
-
Hubener, J.1
Vauti, F.2
Funke, C.3
Wolburg, H.4
Ye, Y.5
Schmidt, T.6
-
130
-
-
0032517816
-
Recruitment and the role of nuclear localization in polyglutamine- mediated aggregation
-
DOI 10.1083/jcb.143.6.1457
-
Perez MK, Paulson HL, Pendse SJ, Saionz SJ, Bonini NM, Pittman RN. Recruitment and the role of nuclear localization in polyglutamine-mediated aggregation. J Cell Biol. 1998;143: 1457-70. (Pubitemid 29006496)
-
(1998)
Journal of Cell Biology
, vol.143
, Issue.6
, pp. 1457-1470
-
-
Perez, M.K.1
Paulson, H.L.2
Pendse, S.J.3
Saionz, S.J.4
Bonini, N.M.5
Pittman, R.N.6
-
131
-
-
0033802841
-
Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado- Joseph disease brains
-
Fujigasaki H, Uchihara T, Koyano S, Iwabuchi K, Yagishita S, Makifuchi T, et al. Ataxin-3 is translocated into the nucleus for the formation of intranuclear inclusions in normal and Machado- Joseph disease brains. Exp Neurol. 2000;165:248-56.
-
(2000)
Exp Neurol
, vol.165
, pp. 248-256
-
-
Fujigasaki, H.1
Uchihara, T.2
Koyano, S.3
Iwabuchi, K.4
Yagishita, S.5
Makifuchi, T.6
-
132
-
-
0034887539
-
Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias - Triple-labeling immunofluorescence study
-
Uchihara T, Fujigasaki H, Koyano S, Nakamura A, Yagishita S, Iwabuchi K. Non-expanded polyglutamine proteins in intranuclear inclusions of hereditary ataxias-triple-labeling immunofluorescence study. Acta Neuropathol. 2001;102:149-52. (Pubitemid 32771662)
-
(2001)
Acta Neuropathologica
, vol.102
, Issue.2
, pp. 149-152
-
-
Uchihara, T.1
Fujigasaki, H.2
Koyano, S.3
Nakamura, A.4
Yagishita, S.5
Iwabuchi, K.6
-
133
-
-
0035976953
-
The role of protein composition in specifying nuclear inclusion formation in polyglutamine disease
-
Chai Y, Wu L, Griffin JD, Paulson HL. The role of protein composition in specifying nuclear inclusion formation in polyglutamine disease. J Biol Chem. 2001;276:44889-97.
-
(2001)
J Biol Chem
, vol.276
, pp. 44889-44897
-
-
Chai, Y.1
Wu, L.2
Griffin, J.D.3
Paulson, H.L.4
-
134
-
-
0035888620
-
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: Proteins recruited in inclusions and activation of caspase-3
-
Zander C, Takahashi J, El Hachimi KH, Fujigasaki H, Albanese V, Lebre AS, et al. Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. Hum Mol Genet. 2001;10:2569-79. (Pubitemid 33095007)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.22
, pp. 2569-2579
-
-
Zander, C.1
Takahashi, J.2
El, H.K.H.3
Fujigasaki, H.4
Albanese, V.5
Lebre, A.S.6
Stevanin, G.7
Duyckaerts, C.8
Brice, A.9
-
135
-
-
0036198110
-
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: Redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions
-
DOI 10.1002/ana.10101
-
Schmidt T, Lindenberg KS, Krebs A, Schols L, Laccone F, Herms J, et al. Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann Neurol. 2002;51:302-10. (Pubitemid 34206286)
-
(2002)
Annals of Neurology
, vol.51
, Issue.3
, pp. 302-310
-
-
Schmidt, T.1
Lindenberg, K.S.2
Krebs, A.3
Schols, L.4
Laccone, F.5
Herms, J.6
Rechsteiner, M.7
Riess, O.8
Landwehrmeyer, B.9
-
136
-
-
0037108725
-
Aggregate formation inhibits proteasomal degradation of polyglutamine proteins
-
Verhoef LG, Lindsten K, Masucci MG, Dantuma NP. Aggregate formation inhibits proteasomal degradation of polyglutamine proteins. Hum Mol Genet. 2002;11:2689-700.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2689-2700
-
-
Verhoef, L.G.1
Lindsten, K.2
Masucci, M.G.3
Dantuma, N.P.4
-
137
-
-
0035947372
-
Impairment of the ubiquitin-proteasome system by protein aggregation
-
DOI 10.1126/science.292.5521.1552
-
Bence NF, Sampat RM, Kopito RR. Impairment of the ubiquitin- proteasome system by protein aggregation. Science. 2001;292: 1552-5. (Pubitemid 32493425)
-
(2001)
Science
, vol.292
, Issue.5521
, pp. 1552-1555
-
-
Bence, N.F.1
Sampat, R.M.2
Kopito, R.R.3
-
138
-
-
0034754875
-
Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation
-
Waelter S, Boeddrich A, Lurz R, Scherzinger E, Lueder G, Lehrach H, et al. Accumulation of mutant huntingtin fragments in aggresome-like inclusion bodies as a result of insufficient protein degradation. Mol Biol Cell. 2001;12:1393-407. (Pubitemid 33044419)
-
(2001)
Molecular Biology of the Cell
, vol.12
, Issue.5
, pp. 1393-1407
-
-
Waelter, S.1
Boeddrich, A.2
Lurz, R.3
Scherzinger, E.4
Lueder, G.5
Lehrach, H.6
Wanker, E.E.7
-
139
-
-
0141891952
-
2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity
-
DOI 10.1083/jcb.200306038
-
Zhou H, Cao F, Wang Z, Yu ZX, Nguyen HP, Evans J, et al. Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity. J Cell Biol. 2003;163:109-18. (Pubitemid 37271438)
-
(2003)
Journal of Cell Biology
, vol.163
, Issue.1
, pp. 109-118
-
-
Zhou, H.1
Cao, F.2
Wang, Z.3
Yu, Z.-X.4
Nguyen, H.-P.5
Evans, J.6
Li, S.-H.7
Li, X.-J.8
-
140
-
-
84864979359
-
Aggregate clearance of alpha-synuclein in Saccharomyces cerevisiae depends more on autophagosome and vacuole function than on the proteasome
-
Petroi D, Popova B, Taheri-Talesh N, Irniger S, Shahpasandzadeh H, Zweckstetter M, et al. Aggregate clearance of alpha-synuclein in Saccharomyces cerevisiae depends more on autophagosome and vacuole function than on the proteasome. J Biol Chem. 2012;287: 27567-79.
-
(2012)
J Biol Chem
, vol.287
, pp. 27567-27579
-
-
Petroi, D.1
Popova, B.2
Taheri-Talesh, N.3
Irniger, S.4
Shahpasandzadeh, H.5
Zweckstetter, M.6
-
141
-
-
0032475877
-
Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial?
-
DOI 10.1016/S0092-8674(00)81743-2
-
Sisodia SS. Nuclear inclusions in glutamine repeat disorders: are they pernicious, coincidental, or beneficial? Cell. 1998;95:1-4. (Pubitemid 28458015)
-
(1998)
Cell
, vol.95
, Issue.1
, pp. 1-4
-
-
Sisodia, S.S.1
-
142
-
-
20144362557
-
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients
-
DOI 10.1093/brain/awh381
-
Adachi H, Katsuno M, Minamiyama M, Waza M, Sang C, Nakagomi Y, et al. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain. 2005;128:659-70. (Pubitemid 40380200)
-
(2005)
Brain
, vol.128
, Issue.3
, pp. 659-670
-
-
Adachi, H.1
Katsuno, M.2
Minamiyama, M.3
Waza, M.4
Sang, C.5
Nakagomi, Y.6
Kobayashi, Y.7
Tanaka, F.8
Doyu, M.9
Inukai, A.10
Yoshida, M.11
Hashizume, Y.12
Sobue, G.13
-
143
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: Role in polyglutarnine- induced disease in SCA1 transgenic mice
-
DOI 10.1016/S0092-8674(00)81781-X
-
Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell. 1998;95:41-53. (Pubitemid 28458023)
-
(1998)
Cell
, vol.95
, Issue.1
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.J.2
Kaytor, M.D.3
Yi, H.4
Hersch, S.M.5
Clark, H.B.6
Zoghbi, H.Y.7
Orr, H.T.8
-
144
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Saudou F, Finkbeiner S, Devys D, Greenberg ME. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell. 1998;95:55-66.
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
Finkbeiner, S.2
Devys, D.3
Greenberg, M.E.4
-
145
-
-
11144305102
-
Glial and neuronal expression of polyglutamine proteins induce behavioral changes and aggregate formation in Drosophila
-
DOI 10.1002/glia.20098
-
Kretzschmar D, Tschape J, Bettencourt Da Cruz A, Asan E, Poeck B, Strauss R, et al. Glial and neuronal expression of polyglutamine proteins induce behavioral changes and aggregate formation in Drosophila . Glia. 2005;49:59-72. (Pubitemid 40023653)
-
(2005)
GLIA
, vol.49
, Issue.1
, pp. 59-72
-
-
Kretzschmar, D.1
Tschape, J.2
Da, C.A.B.3
Asan, E.4
Poeck, B.5
Strauss, R.6
Pflugfelder, G.O.7
-
146
-
-
72749118732
-
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats
-
Boy J, Schmidt T, Schumann U, Grasshoff U, Unser S, Holzmann C, et al. A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease
-
(2010)
Neurobiol Dis
, vol.37
, pp. 284-293
-
-
Boy, J.1
Schmidt, T.2
Schumann, U.3
Grasshoff, U.4
Unser, S.5
Holzmann, C.6
-
147
-
-
38049139425
-
Sensitive biochemical aggregate detection reveals aggregation onset before symptom development in cellular and murine models of Huntington's disease
-
Weiss A, Klein C, Woodman B, Sathasivam K, Bibel M, Regulier E, et al. Sensitive biochemical aggregate detection reveals aggregation onset before symptom development in cellular and murine models of Huntington's disease. J Neurochem. 2008;104:846-58.
-
(2008)
J Neurochem
, vol.104
, pp. 846-858
-
-
Weiss, A.1
Klein, C.2
Woodman, B.3
Sathasivam, K.4
Bibel, M.5
Regulier, E.6
-
148
-
-
0037041420
-
Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases
-
DOI 10.1038/416507a
-
Bucciantini M, Giannoni E, Chiti F, Baroni F, Formigli L, Zurdo J, et al. Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases. Nature. 2002;416:507-11. (Pubitemid 34288846)
-
(2002)
Nature
, vol.416
, Issue.6880
, pp. 507-511
-
-
Bucciantini, M.1
Giannoni, E.2
Chiti, F.3
Baroni, F.4
Formigli, L.5
Zurdo, J.6
Taddei, N.7
Ramponi, G.8
Dobson, C.M.9
Stefani, M.10
-
149
-
-
14944387184
-
Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation
-
DOI 10.1097/00001756-200502280-00019
-
Takahashi T, Nozaki K, Tsuji S, Nishizawa M, Onodera O. Polyglutamine represses cAMP-responsive-element-mediated transcription without aggregate formation. Neuroreport. 2005;16:295-9. (Pubitemid 40364594)
-
(2005)
NeuroReport
, vol.16
, Issue.3
, pp. 295-299
-
-
Takahashi, T.1
Nozaki, K.2
Tsuji, S.3
Nishizawa, M.4
Onodera, O.5
-
150
-
-
84868142926
-
Pharmacological tuning of heat shock protein 70 modulates polyglutamine toxicity and aggregation
-
Chafekar SM, Wisen S, Thompson AD, Echeverria A, Walter GM, Evans CG, et al. Pharmacological tuning of heat shock protein 70 modulates polyglutamine toxicity and aggregation. ACS Chem Biol. 2012;7:1556-64.
-
(2012)
ACS Chem Biol
, vol.7
, pp. 1556-1564
-
-
Chafekar, S.M.1
Wisen, S.2
Thompson, A.D.3
Echeverria, A.4
Walter, G.M.5
Evans, C.G.6
-
151
-
-
77749319356
-
Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein
-
Bauer PO, Goswami A, Wong HK, Okuno M, Kurosawa M, Yamada M, et al. Harnessing chaperone-mediated autophagy for the selective degradation of mutant huntingtin protein. Nat Biotechnol. 2010;28:256-63.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 256-263
-
-
Bauer, P.O.1
Goswami, A.2
Wong, H.K.3
Okuno, M.4
Kurosawa, M.5
Yamada, M.6
-
152
-
-
74249103961
-
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3
-
Menzies FM, Huebener J, Renna M, Bonin M, Riess O, Rubinsztein DC. Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3. Brain. 2010;133:93-104.
-
(2010)
Brain
, vol.133
, pp. 93-104
-
-
Menzies, F.M.1
Huebener, J.2
Renna, M.3
Bonin, M.4
Riess, O.5
Rubinsztein, D.C.6
-
153
-
-
35448981935
-
Autophagy: From phenomenology to molecular understanding in less than a decade
-
DOI 10.1038/nrm2245, PII NRM2245
-
Klionsky DJ. Autophagy: from phenomenology to molecular understanding in less than a decade. Nat Rev Mol Cell Biol. 2007;8: 931-7. (Pubitemid 47622558)
-
(2007)
Nature Reviews Molecular Cell Biology
, vol.8
, Issue.11
, pp. 931-937
-
-
Klionsky, D.J.1
-
154
-
-
34247186472
-
Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4
-
DOI 10.1038/sj.emboj.7601623, PII 7601623
-
Scherz-Shouval R, Shvets E, Fass E, Shorer H, Gil L, Elazar Z. Reactive oxygen species are essential for autophagy and specifically regulate the activity of Atg4. EMBO J. 2007;26:1749-60. (Pubitemid 46624042)
-
(2007)
EMBO Journal
, vol.26
, Issue.7
, pp. 1749-1760
-
-
Scherz-Shouval, R.1
Shvets, E.2
Fass, E.3
Shorer, H.4
Gil, L.5
Elazar, Z.6
-
155
-
-
0036566266
-
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
-
Ravikumar B, Duden R, Rubinsztein DC. Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy. Hum Mol Genet. 2002;11:1107-17. (Pubitemid 34521091)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.9
, pp. 1107-1117
-
-
Ravikumar, B.1
Duden, R.2
Rubinsztein, D.C.3
-
156
-
-
74949090299
-
An overview of the molecular mechanism of autophagy
-
Yang Z, Klionsky DJ. An overview of the molecular mechanism of autophagy. Curr Top Microbiol Immunol. 2009;335:1-32.
-
(2009)
Curr Top Microbiol Immunol
, vol.335
, pp. 1-32
-
-
Yang, Z.1
Klionsky, D.J.2
-
157
-
-
66449083078
-
ULK1.ATG13.FIP200 complex mediates mTOR signaling and is essential for autophagy
-
Ganley IG, du Lam H, Wang J, Ding X, Chen S, Jiang X. ULK1.ATG13.FIP200 complex mediates mTOR signaling and is essential for autophagy. J Biol Chem. 2009;284:12297-305.
-
(2009)
J Biol Chem
, vol.284
, pp. 12297-12305
-
-
Ganley, I.G.1
Du Lam, H.2
Wang, J.3
Ding, X.4
Chen, S.5
Jiang, X.6
-
158
-
-
8044257699
-
The phosphatidylinositol 3-kinase inhibitors wortmannin and LY294002 inhibit in isolated rat hepatocytes
-
Blommaart EF, Krause U, Schellens JP, Vreeling-Sindelarova H, Meijer AJ. The phosphatidylinositol 3-kinase inhibitors wortmannin and LY294002 inhibit autophagy in isolated rat hepatocytes. Eur J Biochem. 1997;243:240-6. (Pubitemid 27060408)
-
(1997)
European Journal of Biochemistry
, vol.243
, Issue.1-2
, pp. 240-246
-
-
Blommaart, E.F.C.1
Krause, U.2
Schellens, J.P.M.3
Vreeling-Sindelarova, H.4
Meijer, A.J.5
-
159
-
-
38949108670
-
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
-
Klionsky DJ, Abeliovich H, Agostinis P, Agrawal DK, Aliev G, Askew DS, et al. Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy. 2008;4: 151-75. (Pubitemid 351231180)
-
(2008)
Autophagy
, vol.4
, Issue.2
, pp. 151-175
-
-
Klionsky, D.J.1
Abeliovich, H.2
Agostinis, P.3
Agrawal, D.K.4
Aliev, G.5
Askew, D.S.6
Baba, M.7
Baehrecke, E.H.8
Bahr, B.A.9
Ballabio, A.10
Bamber, B.A.11
Bassham, D.C.12
Bergamini, E.13
Bi, X.14
Biard-Piechaczyk, M.15
Blum, J.S.16
Bredesen, D.E.17
Brodsky, J.L.18
Brumell, J.H.19
Brunk, U.T.20
Bursch, W.21
Camougrand, N.22
Cebollero, E.23
Cecconi, F.24
Chen, Y.25
Chin, L.-S.26
Choi, A.27
Chu, C.T.28
Chung, J.29
Clarke, P.G.H.30
Clark, R.S.B.31
Clarke, S.G.32
Clave, C.33
Cleveland, J.L.34
Codogno, P.35
Colombo, M.I.36
Cotomontes, A.37
Cregg, J.M.38
Cuervo, A.M.39
Debnath, J.40
Demarchi, F.41
Dennis, P.B.42
Dennis, P.A.43
Deretic, V.44
Devenish, R.J.45
Di, S.F.46
Dice, J.F.47
DiFiglia, M.48
Dinesh-Kumar, S.49
Distelhorst, C.W.50
Djavaheri-Mergny, M.51
Dorsey, F.C.52
Droge, W.53
Dron, M.54
Dunn Jr., W.A.55
Duszenko, M.56
Eissa, N.T.57
Elazar, Z.58
Esclatine, A.59
Eskelinen, E.-L.60
Fesus, L.61
Finley, K.D.62
Fuentes, J.M.63
Fueyo, J.64
Fujisaki, K.65
Galliot, B.66
Gao, F.-B.67
Gewirtz, D.A.68
Gibson, S.B.69
Gohla, A.70
Goldberg, A.L.71
Gonzalez, R.72
Gonzalez-Estevez, C.73
Gorski, S.74
Gottlieb, R.A.75
Haussinger, D.76
He, Y.-W.77
Heidenreich, K.78
Hill, J.A.79
Hoyer-Hansen, M.80
Hu, X.81
Huang, W.-P.82
Iwasaki, A.83
Jaattela, M.84
Jackson, W.T.85
Jiang, X.86
Jin, S.87
Johansen, T.88
Jung, J.U.89
Kadowaki, M.90
Kang, C.91
Kelekar, A.92
Kessel, D.H.93
Kiel, J.A.K.W.94
Hong, P.K.95
Kimchi, A.96
Kinsella, T.J.97
Kiselyov, K.98
Kitamoto, K.99
more..
-
160
-
-
0031593675
-
1 prevents maturation of autophagic vacuoles by inhibiting fusion between autophagosomes and lysosomes in rat hepatoma cell line, H-4-II-E cells
-
Yamamoto A, Tagawa Y, Yoshimori T, Moriyama Y, Masaki R, Tashiro Y. Bafilomycin A1 prevents maturation of autophagic vacuoles by inhibiting fusion between autophagosomes and lysosomes in rat hepatoma cell line, H-4-II-E cells. Cell Struct Funct. 1998;23: 33-42. (Pubitemid 28223394)
-
(1998)
Cell Structure and Function
, vol.23
, Issue.1
, pp. 33-42
-
-
Yamamoto, A.1
Tagawa, Y.2
Yoshimori, T.3
Moriyama, Y.4
Masaki, R.5
Tashiro, Y.6
-
161
-
-
78149475088
-
Regulation of mammalian autophagy in physiology and pathophysiology
-
Ravikumar B, Sarkar S, Davies JE, Futter M, Garcia-Arencibia M, Green-Thompson ZW, et al. Regulation of mammalian autophagy in physiology and pathophysiology. Physiol Rev. 2010;90:1383-435.
-
(2010)
Physiol Rev
, vol.90
, pp. 1383-1435
-
-
Ravikumar, B.1
Sarkar, S.2
Davies, J.E.3
Futter, M.4
Garcia-Arencibia, M.5
Green-Thompson, Z.W.6
-
162
-
-
33745192802
-
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
-
Hara T, Nakamura K, Matsui M,Yamamoto A, Nakahara Y, Suzuki-Migishima R, et al. Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature. 2006;441:885-9.
-
(2006)
Nature
, vol.441
, pp. 885-889
-
-
Hara, T.1
Nakamura, K.2
Matsui, M.3
Yamamoto, A.4
Nakahara, Y.5
Suzuki-Migishima, R.6
-
163
-
-
33646800306
-
Loss of autophagy in the central nervous system causes neurodegeneration in mice
-
Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, Tanida I, et al. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature. 2006;441:880-4.
-
(2006)
Nature
, vol.441
, pp. 880-884
-
-
Komatsu, M.1
Waguri, S.2
Chiba, T.3
Murata, S.4
Iwata, J.5
Tanida, I.6
-
164
-
-
77957189194
-
Alpha-synuclein impairs macroautophagy: Implications for Parkinson's disease
-
Winslow AR, Chen CW, Corrochano S, Acevedo-Arozena A, Gordon DE, Peden AA, et al. Alpha-synuclein impairs macroautophagy: implications for Parkinson's disease. J Cell Biol. 2010;190:1023-37.
-
(2010)
J Cell Biol
, vol.190
, pp. 1023-1037
-
-
Winslow, A.R.1
Chen, C.W.2
Corrochano, S.3
Acevedo-Arozena, A.4
Gordon, D.E.5
Peden, A.A.6
-
165
-
-
74049124412
-
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
-
Ju JS, Fuentealba RA, Miller SE, Jackson E, Piwnica-Worms D, Baloh RH, et al. Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol. 2009;187: 875-88.
-
(2009)
J Cell Biol
, vol.187
, pp. 875-888
-
-
Ju, J.S.1
Fuentealba, R.A.2
Miller, S.E.3
Jackson, E.4
Piwnica-Worms, D.5
Baloh, R.H.6
-
166
-
-
33645776188
-
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
-
Fukuda T, Ewan L, Bauer M, Mattaliano RJ, Zaal K, Ralston E, et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol. 2006;59:700-8.
-
(2006)
Ann Neurol
, vol.59
, pp. 700-708
-
-
Fukuda, T.1
Ewan, L.2
Bauer, M.3
Mattaliano, R.J.4
Zaal, K.5
Ralston, E.6
-
167
-
-
84857029592
-
Abnormal accumulation of autophagic vesicles correlates with axonal and synaptic pathology in young Alzheimer 's mice hippocampus
-
Sanchez-Varo R, Trujillo-Estrada L, Sanchez-Mejias E, Torres M, Baglietto-Vargas D, Moreno-Gonzalez I, et al. Abnormal accumulation of autophagic vesicles correlates with axonal and synaptic pathology in young Alzheimer 's mice hippocampus. Acta Neuropathol. 2012;123:53-70.
-
(2012)
Acta Neuropathol
, vol.123
, pp. 53-70
-
-
Sanchez-Varo, R.1
Trujillo-Estrada, L.2
Sanchez-Mejias, E.3
Torres, M.4
Baglietto-Vargas, D.5
Moreno-Gonzalez, I.6
-
168
-
-
77951665859
-
Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease
-
Martinez-Vicente M, Talloczy Z, Wong E, Tang G, Koga H, Kaushik S, et al. Cargo recognition failure is responsible for inefficient autophagy in Huntington's disease. Nat Neurosci. 2010;13: 567-76.
-
(2010)
Nat Neurosci
, vol.13
, pp. 567-576
-
-
Martinez-Vicente, M.1
Talloczy, Z.2
Wong, E.3
Tang, G.4
Koga, H.5
Kaushik, S.6
-
169
-
-
79551542871
-
Mutant ataxin-3 promotes the autophagic degradation of parkin
-
Durcan TM, Fon EA. Mutant ataxin-3 promotes the autophagic degradation of parkin. Autophagy. 2011;7:233-4.
-
(2011)
Autophagy
, vol.7
, pp. 233-234
-
-
Durcan, T.M.1
Fon, E.A.2
-
170
-
-
31544454404
-
Rapamycin alleviates toxicity of different aggregate-prone proteins
-
DOI 10.1093/hmg/ddi458
-
Berger Z, Ravikumar B, Menzies FM, Oroz LG, Underwood BR, Pangalos MN, et al. Rapamycin alleviates toxicity of different aggregate-prone proteins. Hum Mol Genet. 2006;15:433-42. (Pubitemid 43159895)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.3
, pp. 433-442
-
-
Berger, Z.1
Ravikumar, B.2
Menzies, F.M.3
Oroz, L.G.4
Underwood, B.R.5
Pangalos, M.N.6
Schmitt, I.7
Wullner, U.8
Evert, B.O.9
O'Kane, C.J.10
Rubinsztein, D.C.11
-
171
-
-
0041589248
-
Alpha-synuclein Is Degraded by Both Autophagy and the Proteasome
-
DOI 10.1074/jbc.M300227200
-
Webb JL, Ravikumar B, Atkins J, Skepper JN, Rubinsztein DC. Alpha-synuclein is degraded by both autophagy and the proteasome. J Biol Chem. 2003;278:25009-13. (Pubitemid 37548663)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.27
, pp. 25009-25013
-
-
Webb, J.L.1
Ravikumar, B.2
Atkins, J.3
Skepper, J.N.4
Rubinsztein, D.C.5
-
172
-
-
34249937267
-
Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis
-
DOI 10.1002/ana.21115
-
Lunemann JD, Schmidt J, Schmid D, Barthel K, Wrede A, Dalakas MC, et al. Beta-amyloid is a substrate of autophagy in sporadic inclusion body myositis. Ann Neurol. 2007;61:476-83. (Pubitemid 46878775)
-
(2007)
Annals of Neurology
, vol.61
, Issue.5
, pp. 476-483
-
-
Lunemann, J.D.1
Schmidt, J.2
Schmid, D.3
Barthel, K.4
Wrede, A.5
Dalakas, M.C.6
Munz, C.7
-
173
-
-
42249106042
-
Novel targets for Huntington's disease in an mTOR-independent autophagy pathway
-
DOI 10.1038/nchembio.79, PII NCHEMBIO79
-
Williams A, Sarkar S, Cuddon P, Ttofi EK, Saiki S, Siddiqi FH, et al. Novel targets for Huntington 's disease in an mTOR-independent autophagy pathway. Nat Chem Biol. 2008;4:295-305. (Pubitemid 351550888)
-
(2008)
Nature Chemical Biology
, vol.4
, Issue.5
, pp. 295-305
-
-
Williams, A.1
Sarkar, S.2
Cuddon, P.3
Ttofi, E.K.4
Saiki, S.5
Siddiqi, F.H.6
Jahreiss, L.7
Fleming, A.8
Pask, D.9
Goldsmith, P.10
O'Kane, C.J.11
Floto, R.A.12
Rubinsztein, D.C.13
-
174
-
-
2642586352
-
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease
-
DOI 10.1038/ng1362
-
Ravikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet. 2004;36:585-95. (Pubitemid 38715985)
-
(2004)
Nature Genetics
, vol.36
, Issue.6
, pp. 585-595
-
-
Ravikumar, B.1
Vacher, C.2
Berger, Z.3
Davies, J.E.4
Luo, S.5
Oroz, L.G.6
Scaravilli, F.7
Easton, D.F.8
Duden, R.9
O'Kane, C.J.10
Rubinsztein, D.C.11
-
175
-
-
77951227122
-
Molecular interplay between mammalian target of rapamycin (mTOR), amyloid-beta, and tau: Effects on cognitive impairments
-
Caccamo A, Majumder S, Richardson A, Strong R, Oddo S. Molecular interplay between mammalian target of rapamycin (mTOR), amyloid-beta, and tau: effects on cognitive impairments. J Biol Chem. 2010;285:13107-20.
-
(2010)
J Biol Chem
, vol.285
, pp. 13107-13120
-
-
Caccamo, A.1
Majumder, S.2
Richardson, A.3
Strong, R.4
Oddo, S.5
-
176
-
-
77956305343
-
Inhibition of mTOR by rapamycin abolishes cognitive deficits and reduces amyloid-beta levels in a mouse model of Alzheimer 's disease
-
Spilman P, Podlutskaya N, Hart MJ, Debnath J, Gorostiza O, Bredesen D, et al. Inhibition of mTOR by rapamycin abolishes cognitive deficits and reduces amyloid-beta levels in a mouse model of Alzheimer 's disease. PLoS One. 2010;5:e9979.
-
(2010)
PLoS One
, vol.5
-
-
Spilman, P.1
Podlutskaya, N.2
Hart, M.J.3
Debnath, J.4
Gorostiza, O.5
Bredesen, D.E.A.6
-
177
-
-
70350550208
-
Beclin 1 gene transfer activates autophagy and ameliorates the neurodegenerative pathology in alpha-synuclein models of Parkinson's and Lewy body diseases
-
Spencer B, Potkar R, Trejo M, Rockenstein E, Patrick C, Gindi R, et al. Beclin 1 gene transfer activates autophagy and ameliorates the neurodegenerative pathology in alpha-synuclein models of Parkinson's and Lewy body diseases. J Neurosci. 2009;29:13578-88.
-
(2009)
J Neurosci
, vol.29
, pp. 13578-13588
-
-
Spencer, B.1
Potkar, R.2
Trejo, M.3
Rockenstein, E.4
Patrick, C.5
Gindi, R.6
-
178
-
-
35949001344
-
Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila
-
DOI 10.1371/journal.pgen.0030177
-
Bilen J, Bonini NM. Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila . PLoS Genet. 2007;3:1950-64. (Pubitemid 350072059)
-
(2007)
PLoS Genetics
, vol.3
, Issue.10
, pp. 1950-1964
-
-
Bilen, J.1
Bonini, N.M.2
-
179
-
-
77953254167
-
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy
-
Yamamoto K, Seki T, Adachi N, Takahashi T, Tanaka S, Hide I, et al. Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. Genes Cells. 2010;15:425-38.
-
(2010)
Genes Cells
, vol.15
, pp. 425-438
-
-
Yamamoto, K.1
Seki, T.2
Adachi, N.3
Takahashi, T.4
Tanaka, S.5
Hide, I.6
-
180
-
-
84863870150
-
Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model
-
Yu X, Ajayi A, Boga NR, Strom AL. Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model. J Mol Neurosci. 2012;47:219-33.
-
(2012)
J Mol Neurosci
, vol.47
, pp. 219-233
-
-
Yu, X.1
Ajayi, A.2
Boga, N.R.3
Strom, A.L.4
-
181
-
-
72849148037
-
Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment
-
Mookerjee S, Papanikolaou T, Guyenet SJ, Sampath V, Lin A, Vitelli C, et al. Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. J Neurosci. 2009;29:15134-44.
-
(2009)
J Neurosci
, vol.29
, pp. 15134-15144
-
-
Mookerjee, S.1
Papanikolaou, T.2
Guyenet, S.J.3
Sampath, V.4
Lin, A.5
Vitelli, C.6
-
182
-
-
79957458183
-
Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease
-
Nascimento-Ferreira I, Santos-Ferreira T, Sousa-Ferreira L, Auregan G, Onofre I, Alves S, et al. Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease. Brain. 2011;134:1400-15.
-
(2011)
Brain
, vol.134
, pp. 1400-1415
-
-
Nascimento-Ferreira, I.1
Santos-Ferreira, T.2
Sousa-Ferreira, L.3
Auregan, G.4
Onofre, I.5
Alves, S.6
-
183
-
-
17744363326
-
Electrogenic glutamate transporters in the CNS: Molecular mechanism, pre-steady-state kinetics, and their impact on synaptic signaling
-
DOI 10.1007/s00232-004-0731-6
-
Grewer C, Rauen T. Electrogenic glutamate transporters in the CNS: molecular mechanism, pre-steady-state kinetics, and their impact on synaptic signaling. J Membr Biol. 2005;203:1-20. (Pubitemid 40576957)
-
(2005)
Journal of Membrane Biology
, vol.203
, Issue.1
, pp. 1-20
-
-
Grewer, C.1
Rauen, T.2
-
185
-
-
0033918489
-
Molecular mechanisms of ion conduction in ClC-type chloride channels: Lessons from disease-causing mutations
-
DOI 10.1046/j.1523-1755.2000.00915.x
-
Fahlke C. Molecular mechanisms of ion conduction in ClC-type chloride channels: lessons from disease-causing mutations. Kidney Int. 2000;57:780-6. (Pubitemid 30434766)
-
(2000)
Kidney International
, vol.57
, Issue.3
, pp. 780-786
-
-
Fahlke, C.1
-
186
-
-
0032607389
-
Chloride channels in renal disease
-
Thakker RV. Chloride channels in renal disease. Adv Nephrol Necker Hosp. 1999;29:289-98.
-
(1999)
Adv Nephrol Necker Hosp
, vol.29
, pp. 289-298
-
-
Thakker, R.V.1
-
187
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage- dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage- dependent calcium channel. Nat Genet. 1997;15:62-9.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
-
188
-
-
26044439653
-
Spinocerebellar ataxia type 2: PolyQ repeat variation in the CACNAIA calcium channel modifies age of onset
-
DOI 10.1093/brain/awh586
-
Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, et al. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain. 2005;128:2297-303. (Pubitemid 41407970)
-
(2005)
Brain
, vol.128
, Issue.10
, pp. 2297-2303
-
-
Pulst, S.-M.1
Santos, N.2
Wang, D.3
Yang, H.4
Huynh, D.5
Velazquez, L.6
Figueroa, K.P.7
-
189
-
-
0030699138
-
Spinocerebellar ataxia type 6: Frequency of the mutation and genotype- phenotype correlations
-
Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. Neurology. 1997;49: 1247-51. (Pubitemid 27495623)
-
(1997)
Neurology
, vol.49
, Issue.5
, pp. 1247-1251
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, K.P.3
Karrim, J.4
Baloh, R.W.5
Pulst, S.M.6
-
190
-
-
79961158491
-
Episodic ataxias 1 and 2
-
Baloh RW. Episodic ataxias 1 and 2. Handb Clin Neurol. 2012;103: 595-602.
-
(2012)
Handb Clin Neurol
, vol.103
, pp. 595-602
-
-
Baloh, R.W.1
-
191
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
-
DOI 10.1093/hmg/6.11.1973
-
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997;6:1973-8. (Pubitemid 27460375)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
Trettel, F.4
Sabbadini, G.5
Calandriello, L.6
Francia, A.7
Spadaro, M.8
Pierelli, F.9
Salvi, F.10
Ophoff, R.A.11
Frants, R.R.12
Frontali, M.13
-
192
-
-
0032975258
-
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
-
Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology. 1999;52:1816-21. (Pubitemid 29260894)
-
(1999)
Neurology
, vol.52
, Issue.9
, pp. 1816-1821
-
-
Denier, C.1
Ducros, A.2
Vahedi, K.3
Joutel, A.4
Thierry, P.5
Ritz, A.6
Castelnovo, G.7
Deonna, T.8
Gerard, P.9
Devoize, J.L.10
Gayou, A.11
Perrouty, B.12
Soisson, T.13
Autret, A.14
Warter, J.M.15
Vighetto, A.16
Van Bogaert, P.17
Alamowitch, S.18
Roullet, E.19
Tournier-Lasserve, E.20
more..
-
193
-
-
33344454896
-
Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia
-
DOI 10.1038/nn1648
-
Walter JT, Alvina K, Womack MD, Chevez C, Khodakhah K. Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci. 2006;9:389-97. (Pubitemid 43290969)
-
(2006)
Nature Neuroscience
, vol.9
, Issue.3
, pp. 389-397
-
-
Walter, J.T.1
Alvina, K.2
Womack, M.D.3
Chevez, C.4
Khodakhah, K.5
-
194
-
-
50149093030
-
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels
-
Watase K, Barrett CF, Miyazaki T, Ishiguro T, Ishikawa K, Hu Y, et al. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008;105: 11987-92.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 11987-11992
-
-
Watase, K.1
Barrett, C.F.2
Miyazaki, T.3
Ishiguro, T.4
Ishikawa, K.5
Hu, Y.6
-
195
-
-
30944468501
-
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene
-
Tonelli A, D'AngeloMG, Salati R, Villa L, Germinasi C, Frattini T, et al. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. J Neurol Sci. 2006;241:13-7.
-
(2006)
J Neurol Sci
, vol.241
, pp. 13-17
-
-
Tonelli, A.1
D'Angelo, M.G.2
Salati, R.3
Villa, L.4
Germinasi, C.5
Frattini, T.6
-
196
-
-
0035960623
-
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission
-
Jen J,Wan J, Graves M, Yu H, Mock AF, Coulin CJ, et al. Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology. 2001;57:1843-8. (Pubitemid 33096693)
-
(2001)
Neurology
, vol.57
, Issue.10
, pp. 1843-1848
-
-
Jen, J.1
Wan, J.2
Graves, M.3
Yu, H.4
Mock, A.F.5
Coulin, C.J.6
Kim, G.7
Yue, Q.8
Papazian, D.M.9
Baloh, R.W.10
-
197
-
-
0036792027
-
Familial hemiplegicmigrainemutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons
-
Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C, et al. Familial hemiplegicmigrainemutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci U S A. 2002;99:13284-9.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 13284-13289
-
-
Tottene, A.1
Fellin, T.2
Pagnutti, S.3
Luvisetto, S.4
Striessnig, J.5
Fletcher, C.6
-
198
-
-
10644295470
-
2+ channel gating: Evidence for beta-subunit isoform-specific effects
-
DOI 10.1074/jbc.M408756200
-
Mullner C, Broos LA, van den Maagdenberg AM, Striessnig J. Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects. J Biol Chem. 2004;279:51844-50. (Pubitemid 39656551)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.50
, pp. 51844-51850
-
-
Mullner, C.1
Broos, L.A.M.2
Van Den, M.A.M.J.M.3
Striessnig, J.4
-
199
-
-
0035811775
-
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
-
DOI 10.1056/NEJM200107053450103
-
Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001;345:17-24. (Pubitemid 32634267)
-
(2001)
New England Journal of Medicine
, vol.345
, Issue.1
, pp. 17-24
-
-
Ducros, A.1
Denier, C.2
Joutel, A.3
Cecillon, M.4
Lescoat, C.5
Vahedi, K.6
Darcel, F.7
Vicaut, E.8
Bousser, M.-G.9
Tournier-Lasserve, E.10
-
200
-
-
26444545060
-
An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
-
DOI 10.1212/01.wnl.0000177490.05162.41
-
Waters MF, Fee D, Figueroa KP, Nolte D, Muller U, Advincula J, et al. An autosomal dominant ataxia maps to 19q13: allelic heterogeneity of SCA13 or novel locus? Neurology. 2005;65:1111-3. (Pubitemid 41429643)
-
(2005)
Neurology
, vol.65
, Issue.7
, pp. 1111-1113
-
-
Waters, M.F.1
Fee, D.2
Figueroa, K.P.3
Nolte, D.4
Muller, U.5
Advincula, J.6
Coon, H.7
Evidente, V.G.8
Pulst, S.M.9
-
201
-
-
0033910529
-
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
-
DOI 10.1086/302958
-
Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet. 2000;67:229-35. (Pubitemid 30481561)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.1
, pp. 229-235
-
-
Herman-Bert, A.1
Stevanin, G.2
Netter, J.-C.3
Rascol, O.4
Brassat, D.5
Calvas, P.6
Camuzat, A.7
Yuan, Q.-P.8
Schalling, M.9
Durr, A.10
Brice, A.11
-
202
-
-
33645421783
-
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
-
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet. 2006;38:447-51.
-
(2006)
Nat Genet
, vol.38
, pp. 447-451
-
-
Waters, M.F.1
Minassian, N.A.2
Stevanin, G.3
Figueroa, K.P.4
Bannister, J.P.5
Nolte, D.6
-
204
-
-
75149135255
-
KCNC3: Phenotype, mutations, channel biophysics - A study of 260 familial ataxia patients
-
Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, et al. KCNC3: phenotype, mutations, channel biophysics - a study of 260 familial ataxia patients. Hum Mutat. 2010;31:191-6.
-
(2010)
Hum Mutat
, vol.31
, pp. 191-196
-
-
Figueroa, K.P.1
Minassian, N.A.2
Stevanin, G.3
Waters, M.4
Garibyan, V.5
Forlani, S.6
-
205
-
-
79953232008
-
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)
-
Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, et al. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One. 2011;6:e17811.
-
(2011)
PLoS One
, vol.6
-
-
Figueroa, K.P.1
Waters, M.F.2
Garibyan, V.3
Bird, T.D.4
Gomez, C.M.5
Ranum, L.P.6
-
206
-
-
1642360155
-
Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia
-
DOI 10.1172/JCI200420216
-
Shakkottai VG, Chou CH, Oddo S, Sailer CA, Knaus HG, Gutman GA, et al. Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia. J Clin Invest. 2004;113: 582-90. (Pubitemid 38542507)
-
(2004)
Journal of Clinical Investigation
, vol.113
, Issue.4
, pp. 582-590
-
-
Shakkottai, V.G.1
Chou, C.-H.2
Oddo, S.3
Sailer, C.A.4
Knaus, H.-G.5
Gutman, G.A.6
Barish, M.E.7
LaFerla, F.M.8
Chandy, K.G.9
-
207
-
-
0034797014
-
Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia
-
Figueroa KP, Chan P, Schols L, Tanner C, Riess O, Perlman SL, et al. Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Arch Neurol. 2001;58:1649-53. (Pubitemid 32963230)
-
(2001)
Archives of Neurology
, vol.58
, Issue.10
, pp. 1649-1653
-
-
Figueroa, K.P.1
Chan, P.2
Schols, L.3
Tanner, C.4
Riess, O.5
Perlman, S.L.6
Geschwind, D.H.7
Pulst, S.M.8
-
208
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
DOI 10.1038/ng1094-136
-
Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994;8:136-40. (Pubitemid 24308360)
-
(1994)
Nature Genetics
, vol.8
, Issue.2
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
Brunt, E.R.P.4
Smith, E.A.5
Kramer, P.6
Litt, M.7
-
209
-
-
0032782657
-
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function
-
D'AdamoMC, Imbrici P, Sponcichetti F, Pessia M. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. FASEB J. 1999;13:1335-45.
-
(1999)
FASEB J
, vol.13
, pp. 1335-1345
-
-
D'Adamo, M.C.1
Imbrici, P.2
Sponcichetti, F.3
Pessia, M.4
-
210
-
-
84861653161
-
Voltage-gated potassium channels and the diversity of electrical signalling
-
Jan LY, Jan YN. Voltage-gated potassium channels and the diversity of electrical signalling. J Physiol. 2012;590:2591-9.
-
(2012)
J Physiol
, vol.590
, pp. 2591-2599
-
-
Jan, L.Y.1
Jan, Y.N.2
-
211
-
-
0036400556
-
+ channel subunit dysfunction in inherited mutations of KCNA1
-
DOI 10.1113/jphysiol.2001.013242
-
Rea R, Spauschus A, Eunson LH, Hanna MG, Kullmann DM. Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J Physiol. 2002;538:5-23. (Pubitemid 35190034)
-
(2002)
Journal of Physiology
, vol.538
, Issue.1
, pp. 5-23
-
-
Rea, R.1
Spauschus, A.2
Eunson, L.H.3
Hanna, M.G.4
Kullmann, D.M.5
-
212
-
-
29244455631
-
Kv1 channels selectively prevent dendritic hyperexcitability in rat Purkinje cells
-
DOI 10.1113/jphysiol.2005.098053
-
Khavandgar S, Walter JT, Sageser K, Khodakhah K. Kv1 channels selectively prevent dendritic hyperexcitability in rat Purkinje cells. J Physiol. 2005;569:545-57. (Pubitemid 41830121)
-
(2005)
Journal of Physiology
, vol.569
, Issue.2
, pp. 545-557
-
-
Khavandgar, S.1
Walter, J.T.2
Sageser, K.3
Khodakhah, K.4
-
213
-
-
0345074135
-
A mouse model of episodic ataxia type-1
-
DOI 10.1038/nn1025
-
Herson PS, VirkM, Rustay NR, Bond CT, Crabbe JC, Adelman JP, et al. A mouse model of episodic ataxia type-1. Nat Neurosci. 2003;6:378-83. (Pubitemid 36373983)
-
(2003)
Nature Neuroscience
, vol.6
, Issue.4
, pp. 378-383
-
-
Herson, P.S.1
Virk, M.2
Rustay, N.R.3
Bond, C.T.4
Crabbe, J.C.5
Adelman, J.P.6
Maylie, J.7
-
214
-
-
84856393288
-
Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures
-
Ishida S, Sakamoto Y, Nishio T, Baulac S, Kuwamura M, Ohno Y, et al. Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. Brain Res. 2012;1435:154-66.
-
(2012)
Brain Res
, vol.1435
, pp. 154-166
-
-
Ishida, S.1
Sakamoto, Y.2
Nishio, T.3
Baulac, S.4
Kuwamura, M.5
Ohno, Y.6
-
215
-
-
84871989725
-
Mutations in KCND3 cause spinocerebellar ataxia type 22
-
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2012;72:859-69.
-
(2012)
Ann Neurol
, vol.72
, pp. 859-869
-
-
Lee, Y.C.1
Durr, A.2
Majczenko, K.3
Huang, Y.H.4
Liu, Y.C.5
Lien, C.C.6
-
216
-
-
84871998158
-
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
-
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012;72:870-80.
-
(2012)
Ann Neurol
, vol.72
, pp. 870-880
-
-
Duarri, A.1
Jezierska, J.2
Fokkens, M.3
Meijer, M.4
Schelhaas, H.J.5
Den Dunnen, W.F.6
-
218
-
-
38349116798
-
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
-
Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, et al. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet. 2008;45:32-5
-
(2008)
J Med Genet
, vol.45
, pp. 32-35
-
-
Iwaki, A.1
Kawano, Y.2
Miura, S.3
Shibata, H.4
Matsuse, D.5
Li, W.6
-
219
-
-
34347337686
-
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
-
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007;3:e108.
-
(2007)
PLoS Genet
, vol.3
-
-
Van De Leemput, J.1
Chandran, J.2
Knight, M.A.3
Holtzclaw, L.A.4
Scholz, S.5
Cookson, M.R.6
-
220
-
-
0033681163
-
A model for the topology of excitatory amino acid transporters determined by the extracellular accessibility of substituted cysteines
-
Seal RP, Leighton BH, Amara SG. A model for the topology of excitatory amino acid transporters determined by the extracellular accessibility of substituted cysteines. Neuron. 2000;25:695-706.
-
(2000)
Neuron
, vol.25
, pp. 695-706
-
-
Seal, R.P.1
Leighton, B.H.2
Amara, S.G.3
-
221
-
-
23844500344
-
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
-
DOI 10.1212/01.WNL.0000172638.58172.5a
-
Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 2005;65:529-34. (Pubitemid 41170710)
-
(2005)
Neurology
, vol.65
, Issue.4
, pp. 529-534
-
-
Jen, J.C.1
Wan, J.2
Palos, T.P.3
Howard, B.D.4
Baloh, R.W.5
-
222
-
-
0035909950
-
Sulfhydryl modification of V449C in the glutamate transporter EAAT1 abolishes substrate transport but not the substrate-gated anion conductance
-
DOI 10.1073/pnas.011400198
-
Seal RP, Shigeri Y, Eliasof S, Leighton BH, Amara SG. Sulfhydryl modification of V449C in the glutamate transporter EAAT1 abolishes substrate transport but not the substrate-gated anion conductance. Proc Natl Acad Sci U S A. 2001;98:15324-9. (Pubitemid 34014013)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.26
, pp. 15324-15329
-
-
Seal, R.P.1
Shigeri, Y.2
Eliasof, S.3
Leighton, B.H.4
Amara, S.G.5
-
223
-
-
84865684547
-
De novomutations inATP1A3 cause alternating hemiplegia of childhood
-
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, et al. De novomutations inATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030-4
-
(2012)
Nat Genet
, vol.44
, pp. 1030-1034
-
-
Heinzen, E.L.1
Swoboda, K.J.2
Hitomi, Y.3
Gurrieri, F.4
Nicole, S.5
De Vries, B.6
-
224
-
-
3242700773
-
Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
-
de Carvalho AP, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169-75.
-
(2004)
Neuron
, vol.43
, pp. 169-175
-
-
De Carvalho, A.P.1
Sweadner, K.J.2
Penniston, J.T.3
Zaremba, J.4
Liu, L.5
Caton, M.6
-
225
-
-
84867232035
-
ATP1A3 mutations in infants: A new rapid-onset dystonia parkinsonism phenotype characterized by motor delay and ataxia
-
Brashear A, Mink JW, Hill DF, Boggs N, McCall WV, Stacy MA, et al. ATP1A3 mutations in infants: a new rapid-onset dystonia parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012;54:1065-7.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 1065-1067
-
-
Brashear, A.1
Mink, J.W.2
Hill, D.F.3
Boggs, N.4
McCall, W.V.5
Stacy, M.A.6
-
226
-
-
77956197644
-
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+site
-
Einholm AP, Toustrup-JensenMS, Holm R, Andersen JP, Vilsen B. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+site. J Biol Chem. 2010;285:26245-54.
-
(2010)
J Biol Chem
, vol.285
, pp. 26245-26254
-
-
Einholm, A.P.1
Toustrup-Jensen, M.S.2
Holm, R.3
Andersen, J.P.4
Vilsen, B.5
-
227
-
-
84866000337
-
Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+homeostasis
-
Zanni G, Cali T, Kalscheuer VM, Ottolini D, Barresi S, Lebrun N, et al. Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+homeostasis. Proc Natl Acad Sci U S A. 2012;109:14514-9.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 14514-14519
-
-
Zanni, G.1
Cali, T.2
Kalscheuer, V.M.3
Ottolini, D.4
Barresi, S.5
Lebrun, N.6
-
228
-
-
84871577955
-
Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2
-
Hansen S, Pratap M, Otis T, Pulst SM. Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet. 2013; 22:271-83.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 271-283
-
-
Hansen, S.1
Pratap, M.2
Otis, T.3
Pulst, S.M.4
-
229
-
-
80051770615
-
Aminopyridines correct early dysfunction and delay neurodegeneration in amouse model of spinocerebellar ataxia type 1
-
Hourez R, Servais L, Orduz D, Gall D, Millard I, de Kerchove d'Exaerde A, et al. Aminopyridines correct early dysfunction and delay neurodegeneration in amouse model of spinocerebellar ataxia type 1. J Neurosci. 2011;31:11795-807.
-
(2011)
J Neurosci
, vol.31
, pp. 11795-11807
-
-
Hourez, R.1
Servais, L.2
Orduz, D.3
Gall, D.4
Millard, I.5
De Kerchove D'Exaerde, A.6
-
230
-
-
80052593852
-
Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3
-
Shakkottai VG, do Carmo Costa M, Dell'Orco JM, Sankaranarayanan A, Wulff H, Paulson HL. Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease spinocerebellar ataxia type 3. J Neurosci. 2011;31:13002-14.
-
(2011)
J Neurosci
, vol.31
, pp. 13002-13014
-
-
Shakkottai, V.G.1
Do Carmo Costa, M.2
Dell'Orco, J.M.3
Sankaranarayanan, A.4
Wulff, H.5
Paulson, H.L.6
-
231
-
-
77951722727
-
Genomic and clinical characteristics of microduplications in chromosome 17
-
Shchelochkov OA, Cheung SW, Lupski JR. Genomic and clinical characteristics of microduplications in chromosome 17. Am J Med Genet. 2010;152A:1101-10.
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 1101-1110
-
-
Shchelochkov, O.A.1
Cheung, S.W.2
Lupski, J.R.3
-
232
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, et al. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000;26:191-4.
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
-
233
-
-
71849083831
-
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n
-
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, et al. Spinocerebellar ataxia type 31 is associated with "inserted"penta- nucleotide repeats containing (TGGAA)n. Am J Hum Genet. 2009;85:544-57.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 544-557
-
-
Sato, N.1
Amino, T.2
Kobayashi, K.3
Asakawa, S.4
Ishiguro, T.5
Tsunemi, T.6
-
234
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology. 2001;57:127-30. (Pubitemid 32634862)
-
(2001)
Neurology
, vol.57
, Issue.1
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
235
-
-
78049242008
-
Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral- pallidoluysian atrophy in healthy Chinese Han population
-
Wang JL, Wu YQ, Lei LF, Shen L, Jiang H, Zhou YF, et al. [Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral- pallidoluysian atrophy in healthy Chinese Han population]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:501-5.
-
(2010)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.27
, pp. 501-505
-
-
Wang, J.L.1
Wu, Y.Q.2
Lei, L.F.3
Shen, L.4
Jiang, H.5
Zhou, Y.F.6
-
236
-
-
33747651583
-
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10
-
DOI 10.1212/01.wnl.0000231140.26253.eb, PII 0000611420060822000018
-
Wakamiya M, Matsuura T, Liu Y, Schuster GC, Gao R, Xu W, et al. The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Neurology. 2006;67:607-13. (Pubitemid 44273606)
-
(2006)
Neurology
, vol.67
, Issue.4
, pp. 607-613
-
-
Wakamiya, M.1
Matsuura, T.2
Liu, Y.3
Schuster, G.C.4
Gao, R.5
Xu, W.6
Sarkar, P.S.7
Lin, X.8
Ashizawa, T.9
-
237
-
-
77954165823
-
Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10
-
Keren B, Jacquette A, Depienne C, Leite P, Durr A, Carpentier W, et al. Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. Neurogenetics. 2010;11:273-4.
-
(2010)
Neurogenetics
, vol.11
, pp. 273-274
-
-
Keren, B.1
Jacquette, A.2
Depienne, C.3
Leite, P.4
Durr, A.5
Carpentier, W.6
-
238
-
-
77954171034
-
Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10
-
White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, et al. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet. 2010;6:e1000984.
-
(2010)
PLoS Genet
, vol.6
-
-
White, M.C.1
Gao, R.2
Xu, W.3
Mandal, S.M.4
Lim, J.G.5
Hazra, T.K.6
-
239
-
-
84855877969
-
Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: A toxic RNA gain-of-function model
-
White M, Xia G, Gao R, Wakamiya M, Sarkar PS, McFarland K, et al. Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model. J Neurosci Res. 2012;90:706-14.
-
(2012)
J Neurosci Res
, vol.90
, pp. 706-714
-
-
White, M.1
Xia, G.2
Gao, R.3
Wakamiya, M.4
Sarkar, P.S.5
McFarland, K.6
-
240
-
-
47649098829
-
The transactivation domain of heterogeneous nuclear ribonucleoprotein K overlaps its nuclear shuttling domain
-
Chan JY, Huang SM, Liu ST, Huang CH. The transactivation domain of heterogeneous nuclear ribonucleoprotein K overlaps its nuclear shuttling domain. Int J Biochem Cell Biol. 2008;40:2078 -89.
-
(2008)
Int J Biochem Cell Biol
, vol.40
, pp. 2078-2089
-
-
Chan, J.Y.1
Huang, S.M.2
Liu, S.T.3
Huang, C.H.4
-
241
-
-
0029858735
-
Characterisation of the nucleic-acid-binding activity of KH domains - Different properties of different domains
-
DOI 10.1111/j.1432-1033.1996.00425.x
-
Dejgaard K, Leffers H. Characterisation of the nucleic-acid-binding activity of KH domains. Different properties of different domains. Eur J Biochem. 1996;241:425-31. (Pubitemid 26356829)
-
(1996)
European Journal of Biochemistry
, vol.241
, Issue.2
, pp. 425-431
-
-
Dejgaard, K.1
Leffers, H.2
-
242
-
-
2942623743
-
hnRNP K: One protein multiple processes
-
DOI 10.1002/bies.20048
-
Bomsztyk K, Denisenko O, Ostrowski J. hnRNP K: one protein multiple processes. Bioessays. 2004;26:629-38. (Pubitemid 38758340)
-
(2004)
BioEssays
, vol.26
, Issue.6
, pp. 629-638
-
-
Bomsztyk, K.1
Denisenko, O.2
Ostrowski, J.3
-
243
-
-
0033591364
-
Regulated interaction of protein kinase Cdelta with the heterogeneous nuclear ribonucleoprotein K protein
-
Schullery DS, Ostrowski J, Denisenko ON, Stempka L, Shnyreva M, Suzuki H, et al. Regulated interaction of protein kinase Cdelta with the heterogeneous nuclear ribonucleoprotein K protein. J Biol Chem. 1999;274:15101-9.
-
(1999)
J Biol Chem
, vol.274
, pp. 15101-15109
-
-
Schullery, D.S.1
Ostrowski, J.2
Denisenko, O.N.3
Stempka, L.4
Shnyreva, M.5
Suzuki, H.6
-
244
-
-
0037246123
-
Regulation of cell apoptosis by protein kinase c delta
-
DOI 10.1023/A:1021640817208
-
Brodie C, Blumberg PM. Regulation of cell apoptosis by protein kinase c delta. Apoptosis. 2003;8:19-27. (Pubitemid 36133134)
-
(2003)
Apoptosis
, vol.8
, Issue.1
, pp. 19-27
-
-
Brodie, C.1
Blumberg, P.M.2
-
245
-
-
77950529507
-
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients
-
Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, et al. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J. 2010;29:1248-61.
-
(2010)
EMBO J
, vol.29
, pp. 1248-1261
-
-
Sellier, C.1
Rau, F.2
Liu, Y.3
Tassone, F.4
Hukema, R.K.5
Gattoni, R.6
-
246
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet. 2001;10:2165-70. (Pubitemid 32998828)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.19
, pp. 2165-2170
-
-
Mankodi, A.1
Urbinati, C.R.2
Yuan, Q.-P.3
Moxley, R.T.4
Sansone, V.5
Krym, M.6
Henderson, D.7
Schalling, M.8
Swanson, M.S.9
Thornton, C.A.10
-
247
-
-
11044233708
-
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
-
DOI 10.1093/hmg/ddh327
-
Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet. 2004;13:3079-88. (Pubitemid 40045262)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.24
, pp. 3079-3088
-
-
Jiang, H.1
Mankodi, A.2
Swanson, M.S.3
Moxley, R.T.4
Thornton, C.A.5
-
248
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
DOI 10.1038/ng704
-
Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet. 2001;29:40-7. (Pubitemid 32801806)
-
(2001)
Nature Genetics
, vol.29
, Issue.1
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
249
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
DOI 10.1126/science.280.5364.737
-
Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science. 1998;280:737-41. (Pubitemid 28243348)
-
(1998)
Science
, vol.280
, Issue.5364
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
250
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
DOI 10.1016/S1097-2765(02)00572-5
-
Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell. 2002;10:45-53. (Pubitemid 34879148)
-
(2002)
Molecular Cell
, vol.10
, Issue.1
, pp. 45-53
-
-
Charlet, B.N.1
Savkur, R.S.2
Singh, G.3
Philips, A.V.4
Grice, E.A.5
Cooper, T.A.6
-
251
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
DOI 10.1016/S1097-2765(02)00563-4
-
Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell. 2002;10:35-44. (Pubitemid 34879147)
-
(2002)
Molecular Cell
, vol.10
, Issue.1
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
Beck, C.L.4
Bowers, W.J.5
Moxley, R.T.6
Cannon, S.C.7
Thornton, C.A.8
-
252
-
-
36849035575
-
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
-
DOI 10.1172/JCI33355
-
Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest. 2007;117:3952-7. (Pubitemid 350224104)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.12
, pp. 3952-3957
-
-
Wheeler, T.M.1
Lueck, J.D.2
Swanson, M.S.3
Dirksen, R.T.4
Thornton, C.A.5
-
253
-
-
84885901259
-
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability
-
McFarland KN, Liu J, Landrian I, Gao R, Sarkar PS, Raskin S, et al. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet. 2013;21:1272-6.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 1272-1276
-
-
McFarland, K.N.1
Liu, J.2
Landrian, I.3
Gao, R.4
Sarkar, P.S.5
Raskin, S.6
-
254
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type I: Evidence for familial effects on the age at onset
-
Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet. 1994;55:244-52. (Pubitemid 24233207)
-
(1994)
American Journal of Human Genetics
, vol.55
, Issue.2
, pp. 244-252
-
-
Ranum, L.P.W.1
Chung, M.-Y.2
Banfi, S.3
Bryer, A.4
Schut, L.J.5
Ramesar, R.6
Duvick, L.A.7
McCall, A.8
Subramony, S.H.9
Goldfarb, L.10
Gomez, C.11
Sandkuijl, L.A.12
Orr, H.T.13
Zoghbi, H.Y.14
-
255
-
-
0028828776
-
A novel CAG repeat configuration in the SCA1 gene: Implications for the molecular diagnostics of spinocerebellar ataxia type 1
-
Quan F, Janas J, Popovich BW. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet. 1995;4:2411-3.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2411-2413
-
-
Quan, F.1
Janas, J.2
Popovich, B.W.3
-
256
-
-
0033042856
-
The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)
-
Matsuyama Z, Izumi Y, Kameyama M, Kawakami H, Nakamura S. The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1). JMed Genet. 1999;36:546-8. (Pubitemid 29301597)
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.7
, pp. 546-548
-
-
Matsuyama, Z.1
Izumi, Y.2
Kameyama, M.3
Kawakami, H.4
Nakamura, S.5
-
257
-
-
29244440698
-
Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: Repeat purity as a disease modifier?
-
DOI 10.1086/498654
-
Matsuura T, Fang P, Pearson CE, Jayakar P, Ashizawa T, Roa BB, et al. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? Am J Hum Genet. 2006;78:125-9. (Pubitemid 41833165)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.1
, pp. 125-129
-
-
Matsuura, T.1
Fang, P.2
Pearson, C.E.3
Jayakar, P.4
Ashizawa, T.5
Roa, B.B.6
Nelson, D.L.7
-
258
-
-
69449093578
-
Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss
-
Spaans F, Faber CG, Smeets HJ, Hofman PA, Braida C, Monckton DG, et al. Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss. J Neurol Neurosurg Psychiatry. 2009;80:1029-35.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 1029-1035
-
-
Spaans, F.1
Faber, C.G.2
Smeets, H.J.3
Hofman, P.A.4
Braida, C.5
Monckton, D.G.6
-
259
-
-
77952304645
-
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients
-
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, et al. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet. 2010;19:1399-412.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1399-1412
-
-
Braida, C.1
Stefanatos, R.K.2
Adam, B.3
Mahajan, N.4
Smeets, H.J.5
Niel, F.6
-
260
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature. 2010;466:1069-75.
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
Kim, H.J.2
Hart, M.P.3
Chen-Plotkin, A.S.4
Johnson, B.S.5
Fang, X.6
-
261
-
-
78650043023
-
Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
-
Sakai H, Yoshida K, Shimizu Y, Morita H, Ikeda S, Matsumoto N. Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan. Neurogenetics. 2010;11:409-15.
-
(2010)
Neurogenetics
, vol.11
, pp. 409-415
-
-
Sakai, H.1
Yoshida, K.2
Shimizu, Y.3
Morita, H.4
Ikeda, S.5
Matsumoto, N.6
-
262
-
-
80855131505
-
Model organisms reveal insight into human neurodegenerative disease: Ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS
-
Bonini NM, Gitler AD. Model organisms reveal insight into human neurodegenerative disease: ataxin-2 intermediate-length polyglutamine expansions are a risk factor for ALS. J Mol Neurosci. 2011;45:676-83.
-
(2011)
J Mol Neurosci
, vol.45
, pp. 676-683
-
-
Bonini, N.M.1
Gitler, A.D.2
-
263
-
-
80054874200
-
ATXN-2 CAG repeat expansions are interrupted in ALS patients
-
Corrado L,Mazzini L, Oggioni GD, Luciano B, GodiM, Brusco A, et al. ATXN-2 CAG repeat expansions are interrupted in ALS patients. Hum Genet. 2011;130:575-80.
-
(2011)
Hum Genet
, vol.130
, pp. 575-580
-
-
Corrado, L.1
Mazzini, L.2
Oggioni, G.D.3
Luciano, B.4
Godi, M.5
Brusco, A.6
-
264
-
-
82955228926
-
Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians
-
Ishikawa K, Durr A, Klopstock T, Muller S, De Toffol B, Vidailhet M, et al. Pentanucleotide repeats at the spinocerebellar ataxia type 31 (SCA31) locus in Caucasians. Neurology. 2011;77:1853-5.
-
(2011)
Neurology
, vol.77
, pp. 1853-1855
-
-
Ishikawa, K.1
Durr, A.2
Klopstock, T.3
Muller, S.4
De Toffol, B.5
Vidailhet, M.6
-
265
-
-
79953200132
-
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats
-
Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, Elman L, et al. PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS One. 2011;6:e17951.
-
(2011)
PLoS One
, vol.6
-
-
Yu, Z.1
Zhu, Y.2
Chen-Plotkin, A.S.3
Clay-Falcone, D.4
McCluskey, L.5
Elman, L.6
-
266
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
DOI 10.1038/7710
-
KoobMD,Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999;21:379-84. (Pubitemid 29159573)
-
(1999)
Nature Genetics
, vol.21
, Issue.4
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
Benzow, K.A.4
Bird, T.D.5
Day, J.W.6
Ranum, L.P.W.7
-
267
-
-
27644525713
-
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
-
DOI 10.1016/j.molcel.2005.09.002, PII S1097276505015996
-
Cho DH, Thienes CP, Mahoney SE, Analau E, Filippova GN, Tapscott SJ. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell. 2005;20:483-9. (Pubitemid 41572304)
-
(2005)
Molecular Cell
, vol.20
, Issue.3
, pp. 483-489
-
-
Cho, D.H.1
Thienes, C.P.2
Mahoney, S.E.3
Analau, E.4
Filippova, G.N.5
Tapscott, S.J.6
-
268
-
-
57149089871
-
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: A novel basis for mutational hot spot determination
-
Libby RT, Hagerman KA, Pineda VV, Lau R, Cho DH, Baccam SL, et al. CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genet. 2008;4:e1000257.
-
(2008)
PLoS Genet
, vol.4
-
-
Libby, R.T.1
Hagerman, K.A.2
Pineda, V.V.3
Lau, R.4
Cho, D.H.5
Baccam, S.L.6
-
269
-
-
80051695536
-
A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression
-
Chung DW, Rudnicki DD, Yu L, Margolis RL. A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet. 2011;20:3467-77.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3467-3477
-
-
Chung, D.W.1
Rudnicki, D.D.2
Yu, L.3
Margolis, R.L.4
-
270
-
-
41949137715
-
A comparison of Huntington disease and Huntington disease-like 2 neuropathology
-
DOI 10.1097/NEN.0b013e31816b4aee, PII 0000507220080400000010
-
Rudnicki DD, Pletnikova O, Vonsattel JP, Ross CA, Margolis RL. A comparison of Huntington disease and Huntington disease-like 2 neuropathology. J Neuropathol Exp Neurol. 2008;67:366-74. (Pubitemid 351507491)
-
(2008)
Journal of Neuropathology and Experimental Neurology
, vol.67
, Issue.4
, pp. 366-374
-
-
Rudnicki, D.D.1
Pletnikova, O.2
Vonsattel, J.-P.G.3
Ross, C.A.4
Margolis, R.L.5
-
271
-
-
33745545413
-
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
-
DOI 10.1038/ng1827, PII N1827
-
Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet. 2006;38:758-69. (Pubitemid 43980596)
-
(2006)
Nature Genetics
, vol.38
, Issue.7
, pp. 758-769
-
-
Moseley, M.L.1
Zu, T.2
Ikeda, Y.3
Gao, W.4
Mosemiller, A.K.5
Daughters, R.S.6
Chen, G.7
Weatherspoon, M.R.8
Clark, H.B.9
Ebner, T.J.10
Day, J.W.11
Ranum, L.P.W.12
-
272
-
-
61449238441
-
Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes
-
Ikeda Y, Daughters RS, Ranum LP. Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum. 2008;7:150-8.
-
(2008)
Cerebellum
, vol.7
, pp. 150-158
-
-
Ikeda, Y.1
Daughters, R.S.2
Ranum, L.P.3
-
273
-
-
61449095749
-
Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci
-
Chen IC, Lin HY, Lee GC, Kao SH, Chen CM, Wu YR, et al. Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol. 2009;10:9.
-
(2009)
BMC Mol Biol
, vol.10
, pp. 9
-
-
Chen, I.C.1
Lin, H.Y.2
Lee, G.C.3
Kao, S.H.4
Chen, C.M.5
Wu, Y.R.6
-
274
-
-
77953887860
-
Partners in crime: Bidirectional transcription in unstable microsatellite disease
-
Batra R, Charizanis K, Swanson MS. Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet. 2010;19:R77-82.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Batra, R.1
Charizanis, K.2
Swanson, M.S.3
-
275
-
-
80455168268
-
CAG repeats mimic CUG repeats in the misregulation of alternative splicing
-
Mykowska A, Sobczak K, Wojciechowska M, Kozlowski P, Krzyzosiak WJ. CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res. 2011;39: 8938-51.
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 8938-8951
-
-
Mykowska, A.1
Sobczak, K.2
Wojciechowska, M.3
Kozlowski, P.4
Krzyzosiak, W.J.5
-
276
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A. 2011;108:260-5.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 260-265
-
-
Zu, T.1
Gibbens, B.2
Doty, N.S.3
Gomes-Pereira, M.4
Huguet, A.5
Stone, M.D.6
-
277
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 2013;77:639-46.
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
Dejesus-Hernandez, M.6
-
278
-
-
79953745706
-
Repeat associated non-ATG translation initiation: One DNA, two transcripts, seven reading frames, potentially nine toxic entities!
-
Pearson CE. Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet. 2011;7:e1002018.
-
(2011)
PLoS Genet
, vol.7
-
-
Pearson, C.E.1
-
279
-
-
69549126358
-
Mitochondrial ataxias
-
Finsterer J. Mitochondrial ataxias. Can J Neurol Sci. 2009;36: 543-53.
-
(2009)
Can J Neurol Sci
, vol.36
, pp. 543-553
-
-
Finsterer, J.1
-
280
-
-
84957873679
-
Mitochondrial disorders
-
Manto M, Schmahmann J, Rossi F, Gruol D, Koibuchi N, editors. the Netherlands: Springer
-
Di Donato S, Marmolino D, Taroni F. Mitochondrial disorders. In: Manto M, Schmahmann J, Rossi F, Gruol D, Koibuchi N, editors. Handbook of the cerebellum and cerebellar disorder. the Netherlands: Springer; 2013. p. 2269-311.
-
(2013)
Handbook of the Cerebellum and Cerebellar Disorder
, pp. 2269-2311
-
-
Di Donato, S.1
Marmolino, D.2
Taroni, F.3
-
281
-
-
34249032166
-
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
-
DOI 10.1080/14734220601021700, PII 778834874
-
Montero R, PinedaM, Aracil A, Vilaseca MA, Briones P, Sanchez- Alcazar JA, et al. Clinical, biochemical and molecular aspects of cerebellar ataxia and coenzyme Q10 deficiency. Cerebellum. 2007;6:118-22. (Pubitemid 46788994)
-
(2007)
Cerebellum
, vol.6
, Issue.2
, pp. 118-122
-
-
Montero, R.1
Pineda, M.2
Aracil, A.3
Vilaseca, M.-A.4
Briones, P.5
Sanchez-Alcazar, J.-A.6
Navas, P.7
Artuch, R.8
-
282
-
-
58149400513
-
Human CoQ10 deficiencies
-
Quinzii CM, Lopez LC, Naini A, DiMauro S, Hirano M. Human CoQ10 deficiencies. Biofactors. 2008;32:113-8.
-
(2008)
Biofactors
, vol.32
, pp. 113-118
-
-
Quinzii, C.M.1
Lopez, L.C.2
Naini, A.3
DiMauro, S.4
Hirano, M.5
-
284
-
-
41149121580
-
10 Deficiency
-
DOI 10.1016/j.ajhg.2007.12.024, PII S0002929708001523
-
Lagier-Tourenne C, Tazir M, Lopez LC, Quinzii CM, Assoum M, Drouot N, et al. ADCK3, an ancestral kinase, ismutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008;82:661-72. (Pubitemid 351735958)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.3
, pp. 661-672
-
-
Lagier-Tourenne, C.1
Tazir, M.2
Lopez, L.C.3
Quinzii, C.M.4
Assoum, M.5
Drouot, N.6
Busso, C.7
Makri, S.8
Ali-Pacha, L.9
Benhassine, T.10
Anheim, M.11
Lynch, D.R.12
Thibault, C.13
Plewniak, F.14
Bianchetti, L.15
Tranchant, C.16
Poch, O.17
DiMauro, S.18
Mandel, J.-L.19
Barros, M.H.20
Hirano, M.21
Koenig, M.22
more..
-
285
-
-
77955424107
-
Nonsense mutations in CABC1/ ADCK3 cause progressive cerebellar ataxia and atrophy
-
Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, et al. Nonsense mutations in CABC1/ ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010;10:510-5.
-
(2010)
Mitochondrion
, vol.10
, pp. 510-515
-
-
Gerards, M.1
Van Den Bosch, B.2
Calis, C.3
Schoonderwoerd, K.4
Van Engelen, K.5
Tijssen, M.6
-
286
-
-
81955161104
-
Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood
-
Lu S, Lu LY, Liu MF, Yuan QJ, Sham MH, Guan XY, et al. Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood. Neurobiol Dis. 2012;45: 219-33.
-
(2012)
Neurobiol Dis
, vol.45
, pp. 219-233
-
-
Lu, S.1
Lu, L.Y.2
Liu, M.F.3
Yuan, Q.J.4
Sham, M.H.5
Guan, X.Y.6
-
287
-
-
23644436319
-
Disorders of nuclear-mitochondrial intergenomic signaling
-
DOI 10.1016/j.gene.2005.03.025, PII S0378111905001769
-
Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene. 2005;354:162-8. (Pubitemid 41116697)
-
(2005)
Gene
, vol.354
, Issue.1-2 SPEC. ISS.
, pp. 162-168
-
-
Spinazzola, A.1
Zeviani, M.2
-
288
-
-
83755205842
-
Defects in mitochondrial DNA replication and human disease
-
Copeland WC. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol. 2012;47:64-74.
-
(2012)
Crit Rev Biochem Mol Biol
, vol.47
, pp. 64-74
-
-
Copeland, W.C.1
-
289
-
-
2342429459
-
DNA polymerase gamma, the mitochondrial replicase
-
DOI 10.1146/annurev.biochem.72.121801.161455
-
Kaguni LS. DNA polymerase gamma, the mitochondrial replicase. Annu Rev Biochem. 2004;73:293-320. (Pubitemid 39050371)
-
(2004)
Annual Review of Biochemistry
, vol.73
, pp. 293-320
-
-
Kaguni, L.S.1
-
290
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008;29:E150-72.
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
Zhang, Q.4
Schmitt, E.S.5
Truong, C.6
-
291
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin
-
DOI 10.1086/444548
-
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005;77:430-41. (Pubitemid 41192649)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.3
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
Lappalainen, I.4
Luoma, P.T.5
Rantamaki, M.6
Van Goethem, G.7
Lofgren, A.8
Hackman, P.9
Paetau, A.10
Kaakkola, S.11
Majamaa, K.12
Varilo, T.13
Udd, B.14
Kaariainen, H.15
Bindoff, L.A.16
Suomalainen, A.17
-
292
-
-
48549101970
-
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
-
Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, et al. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord. 2008;18:626-32.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 626-632
-
-
Milone, M.1
Brunetti-Pierri, N.2
Tang, L.Y.3
Kumar, N.4
Mezei, M.M.5
Josephs, K.6
-
293
-
-
27544440060
-
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
-
DOI 10.1093/hmg/ddi328
-
Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet. 2005;14:2981-90. (Pubitemid 41535463)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.20
, pp. 2981-2990
-
-
Nikali, K.1
Suomalainen, A.2
Saharinen, J.3
Kuokkanen, M.4
Spelbrink, J.N.5
Lonnqvist, T.6
Peltonen, L.7
-
296
-
-
62549093116
-
The pathogenesis of Friedreich ataxia and the structure and function of frataxin
-
Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol. 2009;256 Suppl 1:9-17.
-
(2009)
J Neurol
, vol.256
, Issue.SUPPL. 1
, pp. 9-17
-
-
Pandolfo, M.1
Pastore, A.2
-
297
-
-
79957959532
-
Friedreich's ataxia: Past, present and future
-
Marmolino D. Friedreich's ataxia: past, present and future. Brain Res Rev. 2011;67:311-30.
-
(2011)
Brain Res Rev
, vol.67
, pp. 311-330
-
-
Marmolino, D.1
-
298
-
-
84858054466
-
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models
-
Martelli A, Napierala M, Puccio H. Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models. Dis Model Mech. 2012;5:165-76.
-
(2012)
Dis Model Mech
, vol.5
, pp. 165-176
-
-
Martelli, A.1
Napierala, M.2
Puccio, H.3
-
299
-
-
35449008450
-
Frataxin is essential for extramitochondrial Fe - S cluster proteins in mammalian tissues
-
DOI 10.1093/hmg/ddm163
-
Martelli A, Wattenhofer-Donze M, Schmucker S, Bouvet S, Reutenauer L, Puccio H. Frataxin is essential for extramitochondrial Fe -S cluster proteins in mammalian tissues. Hum Mol Genet. 2007;16:2651-8. (Pubitemid 350018507)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.22
, pp. 2651-2658
-
-
Martelli, A.1
Wattenhofer-donze, M.2
Schmucker, S.3
Bouvet, S.4
Reutenauer, L.5
Puccio, H.6
-
300
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 1997;276: 1709- 12.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
Davis-Kaplan, S.4
Jiralerspong, S.5
Montermini, L.6
-
301
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve
-
DOI 10.1038/84818
-
Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet. 2001;27:181-6. (Pubitemid 32157445)
-
(2001)
Nature Genetics
, vol.27
, Issue.2
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
Criqui-Filipe, P.4
Tiziano, F.5
Melki, J.6
Hindelang, C.7
Matyas, R.8
Rustin, P.9
Koenig, M.10
-
302
-
-
0033054177
-
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
-
Wong A,Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, et al. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet. 1999;8:425-30. (Pubitemid 29097330)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.3
, pp. 425-430
-
-
Wong, A.1
Yang, J.2
Cavadini, P.3
Gellera, C.4
Lonnerdal, B.5
Taroni, F.6
Cortopassi, G.7
-
303
-
-
48249156188
-
Mitochondrial disorders in the nervous system
-
DiMauro S, Schon EA. Mitochondrial disorders in the nervous system. Annu Rev Neurosci. 2008;31:91-123.
-
(2008)
Annu Rev Neurosci
, vol.31
, pp. 91-123
-
-
DiMauro, S.1
Schon, E.A.2
-
304
-
-
79959305691
-
Mitochondria: The next (neurode)generation
-
Schon EA, Przedborski S. Mitochondria: the next (neurode)generation. Neuron. 2011;70:1033-53.
-
(2011)
Neuron
, vol.70
, pp. 1033-1053
-
-
Schon, E.A.1
Przedborski, S.2
-
305
-
-
33845977959
-
Mitochondrial membrane permeabilization in cell death
-
DOI 10.1152/physrev.00013.2006
-
Kroemer G, Galluzzi L, Brenner C. Mitochondrial membrane permeabilization in cell death. Physiol Rev. 2007;87:99-163. (Pubitemid 46209992)
-
(2007)
Physiological Reviews
, vol.87
, Issue.1
, pp. 99-163
-
-
Kroemer, G.1
Galluzzi, L.2
Brenner, C.3
-
306
-
-
3543141113
-
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release
-
DOI 10.1093/hmg/ddh162
-
Choo YS, Johnson GV, MacDonald M, Detloff PJ, Lesort M. Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release. Hum Mol Genet. 2004;13:1407-20. (Pubitemid 39023049)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.14
, pp. 1407-1420
-
-
Choo, Y.S.1
Johnson, G.V.W.2
MacDonald, M.3
Detloff, P.J.4
Lesort, M.5
-
307
-
-
0742323776
-
Mechanisms of cell death in polyglutamine expansion diseases
-
DOI 10.1016/j.coph.2003.09.008, PII S1471489203001887
-
Lipinski MM, Yuan J. Mechanisms of cell death in polyglutamine expansion diseases. Curr Opin Pharmacol. 2004;4:85-90. (Pubitemid 38145843)
-
(2004)
Current Opinion in Pharmacology
, vol.4
, Issue.1
, pp. 85-90
-
-
Lipinski, M.M.1
Yuan, J.2
-
308
-
-
30744474942
-
Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating Bax and downregulating Bcl-xL
-
Chou AH, Yeh TH, Kuo YL, Kao YC, Jou MJ, Hsu CY, et al. Polyglutamine-expanded ataxin-3 activates mitochondrial apoptotic pathway by upregulating Bax and downregulating Bcl-xL. Neurobiol Dis. 2006;21:333-45.
-
(2006)
Neurobiol Dis
, vol.21
, pp. 333-345
-
-
Chou, A.H.1
Yeh, T.H.2
Kuo, Y.L.3
Kao, Y.C.4
Jou, M.J.5
Hsu, C.Y.6
-
309
-
-
29044445801
-
Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L)
-
Wang HL, Yeh TH, Chou AH, Kuo YL, Luo LJ, He CY, et al. Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L). Cell Signal. 2006;18:541-52.
-
(2006)
Cell Signal
, vol.18
, pp. 541-552
-
-
Wang, H.L.1
Yeh, T.H.2
Chou, A.H.3
Kuo, Y.L.4
Luo, L.J.5
He, C.Y.6
-
311
-
-
1842533573
-
Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a non-apoptotic pathway
-
DOI 10.1093/hmg/ddh082
-
Ruan Q, Lesort M,MacDonaldME, Johnson GV. Striatal cells from mutant huntingtin knock-in mice are selectively vulnerable to mitochondrial complex II inhibitor-induced cell death through a nonapoptotic pathway. Hum Mol Genet. 2004;13:669-81. (Pubitemid 38455955)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.7
, pp. 669-681
-
-
Ruan, Q.1
Lesort, M.2
MacDonald, M.E.3
Johnson, G.V.W.4
-
313
-
-
33745274726
-
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
-
DOI 10.1016/j.cell.2006.06.010, PII S0092867406007689
-
Chan DC. Mitochondria: dynamic organelles in disease, aging, and development. Cell. 2006;125:1241-52. (Pubitemid 43929096)
-
(2006)
Cell
, vol.125
, Issue.7
, pp. 1241-1252
-
-
Chan, D.C.1
-
314
-
-
67650868959
-
Mitochondrial dynamics in mammalian health and disease
-
Liesa M, Palacin M, Zorzano A. Mitochondrial dynamics in mammalian health and disease. Physiol Rev. 2009;89:799-845.
-
(2009)
Physiol Rev
, vol.89
, pp. 799-845
-
-
Liesa, M.1
Palacin, M.2
Zorzano, A.3
-
315
-
-
34247526419
-
Mitochondrial dynamics in disease
-
DOI 10.1056/NEJMp078040
-
Chan DC. Mitochondrial dynamics in disease. N Engl J Med. 2007;356:1707-9. (Pubitemid 46658702)
-
(2007)
New England Journal of Medicine
, vol.356
, Issue.17
, pp. 1707-1709
-
-
Chan, D.C.1
-
316
-
-
34547601410
-
Mitochondrial Fusion Protects against Neurodegeneration in the Cerebellum
-
DOI 10.1016/j.cell.2007.06.026, PII S0092867407007933
-
Chen H, McCaffery JM, Chan DC.Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell. 2007;130: 548-62. (Pubitemid 47198302)
-
(2007)
Cell
, vol.130
, Issue.3
, pp. 548-562
-
-
Chen, H.1
McCaffery, J.M.2
Chan, D.C.3
-
317
-
-
60249095382
-
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission
-
Dagda RK, Merrill RA, Cribbs JT, Chen Y, Hell JW, Usachev YM, et al. The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission. J Biol Chem. 2008;283:36241-8.
-
(2008)
J Biol Chem
, vol.283
, pp. 36241-36248
-
-
Dagda, R.K.1
Merrill, R.A.2
Cribbs, J.T.3
Chen, Y.4
Hell, J.W.5
Usachev, Y.M.6
-
318
-
-
77955296231
-
The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression
-
Lin CH, Chen CM, Hou YT, Wu YR, Hsieh-Li HM, Su MT, et al. The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression. Hum Genet. 2010;128:205-12.
-
(2010)
Hum Genet
, vol.128
, pp. 205-212
-
-
Lin, C.H.1
Chen, C.M.2
Hou, Y.T.3
Wu, Y.R.4
Hsieh-Li, H.M.5
Su, M.T.6
-
319
-
-
84857136769
-
Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
-
Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, et al. Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A. 2012;109:1661-6.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 1661-1666
-
-
Girard, M.1
Lariviere, R.2
Parfitt, D.A.3
Deane, E.C.4
Gaudet, R.5
Nossova, N.6
-
320
-
-
79958723738
-
Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)
-
WangYC, LeeCM, Lee LC, Tung LC,Hsieh-LiHM, Lee-Chen GJ, et al. Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12). J Biol Chem. 2011;286:21742-54.
-
(2011)
J Biol Chem
, vol.286
, pp. 21742-21754
-
-
Wang, Y.C.1
Lee, C.M.2
Lee, L.C.3
Tung, L.C.4
Hsieh-Li, H.M.5
Lee-Chen, G.J.6
-
321
-
-
84858791998
-
Mitochondrial quality control: A matter of life and death for neurons
-
Rugarli EI, Langer T. Mitochondrial quality control: a matter of life and death for neurons. EMBO J. 2012;31:1336-49.
-
(2012)
EMBO J
, vol.31
, pp. 1336-1349
-
-
Rugarli, E.I.1
Langer, T.2
-
322
-
-
77950298030
-
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
-
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet. 2010;42:313-21.
-
(2010)
Nat Genet
, vol.42
, pp. 313-321
-
-
Di Bella, D.1
Lazzaro, F.2
Brusco, A.3
Plumari, M.4
Battaglia, G.5
Pastore, A.6
-
323
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
DOI 10.1016/S0092-8674(00)81203-9
-
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998;93:973-83. (Pubitemid 28280791)
-
(1998)
Cell
, vol.93
, Issue.6
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernandez, P.6
De Michele, G.7
Filla, A.8
Cocozza, S.9
Marconi, R.10
Durr, A.11
Fontaine, B.12
Ballabio, A.13
-
324
-
-
38549101188
-
Quality control of mitochondria: Protection against neurodegeneration and ageing
-
DOI 10.1038/sj.emboj.7601972, PII 7601972
-
Tatsuta T, Langer T. Quality control of mitochondria: protection against neurodegeneration and ageing. EMBO J. 2008;27:306-14. (Pubitemid 351161660)
-
(2008)
EMBO Journal
, vol.27
, Issue.2
, pp. 306-314
-
-
Tatsuta, T.1
Langer, T.2
-
325
-
-
78751600248
-
Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias
-
Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, et al. Missense mutations in the AFG3L2 proteolytic domain account for approximately 1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat. 2010;31:1117-24.
-
(2010)
Hum Mutat
, vol.31
, pp. 1117-1124
-
-
Cagnoli, C.1
Stevanin, G.2
Brussino, A.3
Barberis, M.4
Mancini, C.5
Margolis, R.L.6
-
326
-
-
80055087830
-
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
-
Pierson TM, Adams D, Bonn F,Martinelli P, Cherukuri PF, Teer JK, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011;7:e1002325.
-
(2011)
PLoS Genet
, vol.7
-
-
Pierson, T.M.1
Adams, D.2
Bonn, F.3
Martinelli, P.4
Cherukuri, P.F.5
Teer, J.K.6
-
327
-
-
65849086684
-
Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis
-
Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, et al. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis. Cerebellum. 2008;7:184-8.
-
(2008)
Cerebellum
, vol.7
, pp. 184-188
-
-
Mariotti, C.1
Brusco, A.2
Di Bella, D.3
Cagnoli, C.4
Seri, M.5
Gellera, C.6
-
328
-
-
84868628376
-
AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival
-
Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, et al. AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest. 2012;122:4048-58.
-
(2012)
J Clin Invest
, vol.122
, pp. 4048-4058
-
-
Almajan, E.R.1
Richter, R.2
Paeger, L.3
Martinelli, P.4
Barth, E.5
Decker, T.6
-
329
-
-
84865080562
-
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation
-
Maltecca F, De Stefani D, Cassina L, Consolato F, Wasilewski M, Scorrano L, et al. Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation. Hum Mol Genet. 2012;21:3858-70.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3858-3870
-
-
Maltecca, F.1
De Stefani, D.2
Cassina, L.3
Consolato, F.4
Wasilewski, M.5
Scorrano, L.6
-
330
-
-
84865626592
-
A review of Friedreich ataxia clinical trial results
-
Perlman SL. A review of Friedreich ataxia clinical trial results. J Child Neurol. 2012;27:1217-22.
-
(2012)
J Child Neurol
, vol.27
, pp. 1217-1222
-
-
Perlman, S.L.1
-
331
-
-
73349095005
-
Intensive coordinative training improves motor performance in degenerative cerebellar disease
-
Ilg W, Synofzik M, Brotz D, Burkard S, Giese MA, Schols L. Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology. 2009;73:1823-30.
-
(2009)
Neurology
, vol.73
, pp. 1823-1830
-
-
Ilg, W.1
Synofzik, M.2
Brotz, D.3
Burkard, S.4
Giese, M.A.5
Schols, L.6
-
332
-
-
78649352148
-
Longterm effects of coordinative training in degenerative cerebellar disease
-
IlgW, Brotz D, Burkard S, GieseMA, Schols L, SynofzikM. Longterm effects of coordinative training in degenerative cerebellar disease. Mov Disord. 2010;25:2239-46.
-
(2010)
Mov Disord
, vol.25
, pp. 2239-2246
-
-
Ilg, W.1
Brotz, D.2
Burkard, S.3
Giese, M.A.4
Schols, L.5
Synofzik, M.6
-
333
-
-
56049103058
-
Long intronic GAA&z.Ast;TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
-
Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, Napierala M. Long intronic GAA&z.ast;TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res. 2008;36:6056-65.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 6056-6065
-
-
Soragni, E.1
Herman, D.2
Dent, S.Y.3
Gottesfeld, J.M.4
Wells, R.D.5
Napierala, M.6
-
334
-
-
44349114629
-
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
-
Rai M, Soragni E, Jenssen K, Burnett R, Herman D, Coppola G, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One. 2008;3:e1958.
-
(2008)
PLoS One
, vol.3
-
-
Rai, M.1
Soragni, E.2
Jenssen, K.3
Burnett, R.4
Herman, D.5
Coppola, G.6
-
335
-
-
77952530173
-
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells fromFriedreich's ataxia patients and in a mouse model
-
Rai M, Soragni E, Chou CJ, Barnes G, Jones S, Rusche JR, et al. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells fromFriedreich's ataxia patients and in a mouse model. PLoS One. 2010;5:e8825.
-
(2010)
PLoS One
, vol.5
-
-
Rai, M.1
Soragni, E.2
Chou, C.J.3
Barnes, G.4
Jones, S.5
Rusche, J.R.6
-
336
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
DOI 10.1038/nchembio815, PII NCHEMBIO815
-
Herman D, Jenssen K, Burnett R, Soragni E, Perlman SL, Gottesfeld JM. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol. 2006;2:551-8. (Pubitemid 44413238)
-
(2006)
Nature Chemical Biology
, vol.2
, Issue.10
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
337
-
-
70349163898
-
Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing
-
Xu C, Soragni E, Chou CJ, Herman D, Plasterer HL, Rusche JR, et al. Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing. Chem Biol. 2009;16:980-9.
-
(2009)
Chem Biol
, vol.16
, pp. 980-989
-
-
Xu, C.1
Soragni, E.2
Chou, C.J.3
Herman, D.4
Plasterer, H.L.5
Rusche, J.R.6
-
338
-
-
41149114813
-
FXTAS: A bad RNA and a hope for a cure
-
DOI 10.1517/14712598.8.3.249
-
Shan G, Xu S, Jin P. FXTAS: a bad RNA and a hope for a cure. Expert Opin Biol Ther. 2008;8:249-53. (Pubitemid 351428414)
-
(2008)
Expert Opinion on Biological Therapy
, vol.8
, Issue.3
, pp. 249-253
-
-
Shan, G.1
Xu, S.2
Jin, P.3
-
339
-
-
78650693402
-
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing inmodels of fragile X tremor ataxia syndrome
-
Todd PK, Oh SY, Krans A, Pandey UB, Di Prospero NA, Min KT, et al. Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing inmodels of fragile X tremor ataxia syndrome. PLoS Genet. 2010;6:e1001240.
-
(2010)
PLoS Genet
, vol.6
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
Pandey, U.B.4
Di Prospero, N.A.5
Min, K.T.6
-
340
-
-
4043057946
-
RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia
-
DOI 10.1038/nm1076
-
Xia H, Mao Q, Eliason SL, Harper SQ, Martins IH, Orr HT, et al. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med. 2004;10:816-20. (Pubitemid 39070854)
-
(2004)
Nature Medicine
, vol.10
, Issue.8
, pp. 816-820
-
-
Xia, H.1
Mao, Q.2
Eliason, S.L.3
Harper, S.Q.4
Martins, I.H.5
Orr, H.T.6
Paulson, H.L.7
Yang, L.8
Kotin, R.M.9
Davidson, B.L.10
-
341
-
-
70349643622
-
Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype
-
Scholefield J, Greenberg LJ, Weinberg MS, Arbuthnot PB, Abdelgany A, Wood MJ. Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. PLoS One. 2009;4:e7232.
-
(2009)
PLoS One
, vol.4
-
-
Scholefield, J.1
Greenberg, L.J.2
Weinberg, M.S.3
Arbuthnot, P.B.4
Abdelgany, A.5
Wood, M.J.6
-
342
-
-
79955461204
-
Allele-selective inhibition of ataxin-3 (ATX3) expression by antisense oligomers and duplex RNAs
-
Hu J, Gagnon KT, Liu J, Watts JK, Syeda-Nawaz J, Bennett CF, et al. Allele-selective inhibition of ataxin-3 (ATX3) expression by antisense oligomers and duplex RNAs. Biol Chem. 2011;392: 315-25.
-
(2011)
Biol Chem
, vol.392
, pp. 315-325
-
-
Hu, J.1
Gagnon, K.T.2
Liu, J.3
Watts, J.K.4
Syeda-Nawaz, J.5
Bennett, C.F.6
-
343
-
-
84857721326
-
An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases
-
Fiszer A, Olejniczak M, Switonski PM, Wroblewska JP, Wisniewska-Kruk J, Mykowska A, et al. An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases. BMC Mol Biol. 2012;13:6.
-
(2012)
BMC Mol Biol
, vol.13
, pp. 6
-
-
Fiszer, A.1
Olejniczak, M.2
Switonski, P.M.3
Wroblewska, J.P.4
Wisniewska-Kruk, J.5
Mykowska, A.6
-
344
-
-
79960269997
-
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6
-
Tsou WL, Soong BW, Paulson HL, Rodriguez-Lebron E. Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6. Neurobiol Dis. 2011;43:533-42.
-
(2011)
Neurobiol Dis
, vol.43
, pp. 533-542
-
-
Tsou, W.L.1
Soong, B.W.2
Paulson, H.L.3
Rodriguez-Lebron, E.4
-
346
-
-
39049121295
-
Drug Insight: Antioxidant therapy in inherited ataxias
-
DOI 10.1038/ncpneuro0704, PII NCPNEURO0704
-
Pandolfo M. Drug insight: antioxidant therapy in inherited ataxias. Nat Clin Pract Neurol. 2008;4:86-96. (Pubitemid 351248066)
-
(2008)
Nature Clinical Practice Neurology
, vol.4
, Issue.2
, pp. 86-96
-
-
Pandolfo, M.1
-
347
-
-
84864024011
-
A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial
-
Lynch DR, Willi SM, Wilson RB, Cotticelli MG, Brigatti KW, Deutsch EC, et al. A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord. 2012;27: 1026-33.
-
(2012)
Mov Disord
, vol.27
, pp. 1026-1033
-
-
Lynch, D.R.1
Willi, S.M.2
Wilson, R.B.3
Cotticelli, M.G.4
Brigatti, K.W.5
Deutsch, E.C.6
-
348
-
-
39149088014
-
Steroid-induced improvement of neurological signs in ataxia- telangiectasia patients
-
DOI 10.1111/j.1468-1331.2008.02060.x
-
Broccoletti T, Del Giudice E, Amorosi S, Russo I, Di Bonito M, Imperati F, et al. Steroid-induced improvement of neurological signs in ataxia-telangiectasia patients. Eur J Neurol. 2008;15:223-8. (Pubitemid 351257930)
-
(2008)
European Journal of Neurology
, vol.15
, Issue.3
, pp. 223-228
-
-
Broccoletti, T.1
Del, G.E.2
Amorosi, S.3
Russo, I.4
Di, B.M.5
Imperati, F.6
Romano, A.7
Pignata, C.8
-
349
-
-
78650031174
-
Huntington's disease: From molecular pathogenesis to clinical treatment
-
Ross CA, Tabrizi SJ. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol. 2011;10:83-98.
-
(2011)
Lancet Neurol
, vol.10
, pp. 83-98
-
-
Ross, C.A.1
Tabrizi, S.J.2
-
350
-
-
75249096093
-
Development of histone deacetylase inhibitors as therapeutics for neurological disease
-
Gottesfeld JM, Pandolfo M. Development of histone deacetylase inhibitors as therapeutics for neurological disease. Future Neurol. 2009;4:775-84.
-
(2009)
Future Neurol
, vol.4
, pp. 775-784
-
-
Gottesfeld, J.M.1
Pandolfo, M.2
-
351
-
-
78650613146
-
HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3
-
Chou AH, Chen SY, Yeh TH, Weng YH, Wang HL. HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3. Neurobiol Dis. 2011;41:481-8.
-
(2011)
Neurobiol Dis
, vol.41
, pp. 481-488
-
-
Chou, A.H.1
Chen, S.Y.2
Yeh, T.H.3
Weng, Y.H.4
Wang, H.L.5
-
352
-
-
77952889769
-
Human ataxias: A genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling
-
Schorge S, van de Leemput J, Singleton A, Houlden H, Hardy J. Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling. Trends Neurosci. 2010;33:211-9.
-
(2010)
Trends Neurosci
, vol.33
, pp. 211-219
-
-
Schorge, S.1
Van De Leemput, J.2
Singleton, A.3
Houlden, H.4
Hardy, J.5
-
353
-
-
84866241154
-
Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar Purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice
-
Kasumu AW, Liang X, Egorova P, Vorontsova D, Bezprozvanny I. Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar Purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice. J Neurosci. 2012;32:12786-96.
-
(2012)
J Neurosci
, vol.32
, pp. 12786-12796
-
-
Kasumu, A.W.1
Liang, X.2
Egorova, P.3
Vorontsova, D.4
Bezprozvanny, I.5
-
354
-
-
0343820077
-
Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology
-
DOI 10.1038/sj.ejhg.5200403
-
Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet. 2000;8:4-18. (Pubitemid 30113790)
-
(2000)
European Journal of Human Genetics
, vol.8
, Issue.1
, pp. 4-18
-
-
Stevanin, G.1
Durr, A.2
Brice, A.3
-
355
-
-
58149308310
-
Spinocerebellar ataxias types 1, 2 and 3: Age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths
-
Netravathi M, Pal PK, Purushottam M, Thennarasu K, Mukherjee M, Jain S. Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths. J Neurol Sci. 2009;277:83-6.
-
(2009)
J Neurol Sci
, vol.277
, pp. 83-86
-
-
Netravathi, M.1
Pal, P.K.2
Purushottam, M.3
Thennarasu, K.4
Mukherjee, M.5
Jain, S.6
-
356
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi T, Koide R, Tanaka H, Onodera O, Igarashi S, Takahashi H, et al. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol. 1995;37:769-75.
-
(1995)
Ann Neurol
, vol.37
, pp. 769-775
-
-
Ikeuchi, T.1
Koide, R.2
Tanaka, H.3
Onodera, O.4
Igarashi, S.5
Takahashi, H.6
-
357
-
-
0028815025
-
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
-
Komure O, Sano A, Nishino N, Yamauchi N, Ueno S, Kondoh K, et al. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology. 1995;45:143-9.
-
(1995)
Neurology
, vol.45
, pp. 143-149
-
-
Komure, O.1
Sano, A.2
Nishino, N.3
Yamauchi, N.4
Ueno, S.5
Kondoh, K.6
-
358
-
-
36349021396
-
Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?
-
DOI 10.1212/01.wnl.0000269323.21969.db
-
Charles P, Camuzat A, Benammar N, Sellal F, Destee A, Bonnet AM, et al. Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism? Neurology. 2007;69:1970-5. (Pubitemid 350145088)
-
(2007)
Neurology
, vol.69
, Issue.21
, pp. 1970-1975
-
-
Charles, P.1
Camuzat, A.2
Benammar, N.3
Sellal, F.4
Destee, A.5
Bonnet, A.-M.6
Lesage, S.7
Le, B.I.8
Stevanin, G.9
Durr, A.10
Brice, A.11
Agid, Y.12
Borg, M.13
Broussolle, E.14
Damier, P.15
Durif, F.16
Lohmann, E.17
Martinez, M.18
Penet, C.19
Pollak, P.20
Rascol, O.21
Tison, F.22
Tranchant, C.23
Verin, M.24
Viallet, F.25
Vidailhet, M.26
more..
-
359
-
-
34147133294
-
Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients
-
DOI 10.1002/mds.21228
-
Modoni A, Contarino MF, Bentivoglio AR, Tabolacci E, Santoro M, Calcagni ML, et al. Prevalence of spinocerebellar ataxia type 2 mutation among Italian parkinsonian patients. Mov Disord. 2007;22:324-7. (Pubitemid 46569684)
-
(2007)
Movement Disorders
, vol.22
, Issue.3
, pp. 324-327
-
-
Modoni, A.1
Contarino, M.F.2
Bentivoglio, A.R.3
Tabolacci, E.4
Santoro, M.5
Calcagni, M.L.6
Tonali, P.A.7
Neri, G.8
Silvestri, G.9
-
360
-
-
0029047109
-
Correlation between CAG repeat length and clinical features in Machado-Joseph disease
-
Maciel P, Gaspar C, DeStefano AL, Silveira I, Coutinho P, Radvany J, et al. Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Am J Hum Genet. 1995;57:54-61.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 54-61
-
-
Maciel, P.1
Gaspar, C.2
DeStefano, A.L.3
Silveira, I.4
Coutinho, P.5
Radvany, J.6
-
361
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
DOI 10.1002/ana.410390411
-
Durr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol. 1996;39:490-9. (Pubitemid 26118004)
-
(1996)
Annals of Neurology
, vol.39
, Issue.4
, pp. 490-499
-
-
Durr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
Didierjean, O.6
Chneiweiss, H.7
Benomar, A.8
Lyon-Caen, O.9
Julien, J.10
Serdaru, M.11
Penet, C.12
Agid, Y.13
Brice, A.14
-
362
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
DOI 10.1093/hmg/7.2.165
-
David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet. 1998;7:165-70. (Pubitemid 28048530)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.2
, pp. 165-170
-
-
David, G.1
Durr, A.2
Stevanin, G.3
Cancel, G.4
Abbas, N.5
Benomar, A.6
Belal, S.7
Lebre, A.-S.8
Abada-Bendib, M.9
Grid, D.10
Holmberg, M.11
Yahyaoui, M.12
Hentati, F.13
Chkili, T.14
Agid, Y.15
Brice, A.16
-
363
-
-
0029890963
-
A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease
-
DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, et al. A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. Am J Hum Genet. 1996;59:119-27
-
(1996)
Am J Hum Genet
, vol.59
, pp. 119-127
-
-
DeStefano, A.L.1
Cupples, L.A.2
Maciel, P.3
Gaspar, C.4
Radvany, J.5
Dawson, D.M.6
-
364
-
-
16344388976
-
Age at onset variance analysis in spinocerebellar ataxias: A study in a Dutch-French cohort
-
van de Warrenburg BP, Hendriks H, Durr A, van Zuijlen MC, Stevanin G, Camuzat A, et al. Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann Neurol. 2005;57:505-12.
-
(2005)
Ann Neurol
, vol.57
, pp. 505-512
-
-
Van De Warrenburg, B.P.1
Hendriks, H.2
Durr, A.3
Van Zuijlen, M.C.4
Stevanin, G.5
Camuzat, A.6
-
365
-
-
0033867386
-
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
-
Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, et al. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hum Mol Genet. 2000;9:1753-8. (Pubitemid 30608609)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.12
, pp. 1753-1758
-
-
Hayes, S.1
Turecki, G.2
Brisebois, K.3
Lopes-Cendes, I.4
Gaspar, C.5
Riess, O.6
Ranum, L.P.W.7
Pulst, S.-M.8
Rouleau, G.A.9
-
366
-
-
0038042172
-
Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
-
DOI 10.1016/S0304-3940(03)00436-1
-
Chattopadhyay B, Ghosh S, Gangopadhyay PK, Das SK, Roy T, Sinha KK, et al. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci Lett. 2003;345:93-6. (Pubitemid 36734870)
-
(2003)
Neuroscience Letters
, vol.345
, Issue.2
, pp. 93-96
-
-
Chattopadhyay, B.1
Ghosh, S.2
Gangopadhyay, P.K.3
Das, S.K.4
Roy, T.5
Sinha, K.K.6
Jha, D.K.7
Mukherjee, S.C.8
Chakraborty, A.9
Singhal, B.S.10
Bhattacharya, A.K.11
Bhattacharyya, N.P.12
-
367
-
-
0344838660
-
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype
-
DOI 10.1034/j.1600-0404.2003.00046.x
-
Jardim L, Silveira I, Pereira ML, do Ceu Moreira M, Mendonca P, Sequeiros J, et al. Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype. Acta Neurol Scand. 2003;107:211-4. (Pubitemid 36398997)
-
(2003)
Acta Neurologica Scandinavica
, vol.107
, Issue.3
, pp. 211-214
-
-
Jardim, L.1
Silveira, I.2
Pereira, M.L.3
Do, C.M.M.4
Mendonca, P.5
Sequeiros, J.6
Giugliani, R.7
-
368
-
-
33847769390
-
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes
-
DOI 10.1523/JNEUROSCI.5453-06.2007
-
Latouche M, Lasbleiz C, Martin E, Monnier V, Debeir T, Mouatt- Prigent A, et al. A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genes. J Neurosci. 2007;27:2483-92. (Pubitemid 46393606)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.10
, pp. 2483-2492
-
-
Latouche, M.1
Lasbleiz, C.2
Martin, E.3
Monnier, V.4
Debeir, T.5
Mouatt-Prigent, A.6
Muriel, M.-P.7
Morel, L.8
Ruberg, M.9
Brice, A.10
Stevanin, G.11
Tricoire, H.12
-
369
-
-
40149101562
-
Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila
-
Lessing D, Bonini NM. Polyglutamine genes interact to modulate the severity and progression of neurodegeneration in Drosophila. PLoS Biol. 2008;6:e29.
-
(2008)
PLoS Biol
, vol.6
-
-
Lessing, D.1
Bonini, N.M.2
-
370
-
-
84868368482
-
Large-scale screen for modifiers of ataxin-3-derived polyglutamine- induced toxicity in Drosophila
-
Vo SH, Butzlaff M, Pru SK, Ni Charthaigh RA, Karsten P, Lankes A, et al. Large-scale screen for modifiers of ataxin-3-derived polyglutamine-induced toxicity in Drosophila . PLoS One. 2012;7: e47452.
-
(2012)
PLoS One
, vol.7
-
-
Vo, S.H.1
Butzlaff, M.2
Pru, S.K.3
Ni Charthaigh, R.A.4
Karsten, P.5
Lankes, A.6
-
371
-
-
0034783914
-
CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia
-
Fujigasaki H, Martin JJ, De Deyn PP, Camuzat A, Deffond D, Stevanin G, et al. CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia. Brain. 2001;124:1939-47. (Pubitemid 32945895)
-
(2001)
Brain
, vol.124
, Issue.10
, pp. 1939-1947
-
-
Fujigasaki, H.1
Martin, J.-J.2
De Deyn, P.P.3
Camuzat, A.4
Deffond, D.5
Stevanin, G.6
Dermaut, B.7
Van Broeckhoven, C.8
Durr, A.9
Brice, A.10
-
372
-
-
4043175666
-
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
-
DOI 10.1001/archneur.61.8.1314
-
Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, Casari G, et al. Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol. 2004;61:1314-20. (Pubitemid 39062691)
-
(2004)
Archives of Neurology
, vol.61
, Issue.8
, pp. 1314-1320
-
-
Bruni, A.C.1
Takahashi-Fujigasaki, J.2
Maltecca, F.3
Foncin, J.F.4
Servadio, A.5
Casari, G.6
D'Adamo, P.7
Maletta, R.8
Curcio, S.A.M.9
De Michele, G.10
Filla, A.11
El, H.K.H.12
Duyckaerts, C.13
-
373
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
DOI 10.1002/ana.10676
-
Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, Topka H, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003;54:367-75. (Pubitemid 37072039)
-
(2003)
Annals of Neurology
, vol.54
, Issue.3
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
Bauer, P.4
Buhlmann, S.5
Topka, H.6
Schols, L.7
Riess, O.8
-
374
-
-
0037846441
-
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
-
DOI 10.1016/S0896-6273(03)00258-7
-
Emamian ES, Kaytor MD, Duvick LA, Zu T, Tousey SK, Zoghbi HY, et al. Serine 776 of ataxin-1 is critical for poly glutamine-induced disease in SCA1 transgenic mice. Neuron. 2003;38: 375-87. (Pubitemid 36579141)
-
(2003)
Neuron
, vol.38
, Issue.3
, pp. 375-387
-
-
Emamian, E.S.1
Kaytor, M.D.2
Duvick, L.A.3
Zu, T.4
Tousey, S.K.5
Zoghbi, H.Y.6
Clark, H.B.7
Orr, H.T.8
-
375
-
-
17744393249
-
A cell-based screen for modulators of ataxin-1 phosphorylation
-
DOI 10.1093/hmg/ddi122
-
Kaytor MD, Byam CE, Tousey SK, Stevens SD, Zoghbi HY, Orr HT. A cell-based screen formodulators of ataxin-1 phosphorylation. Hum Mol Genet. 2005;14:1095-105. (Pubitemid 40575885)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.8
, pp. 1095-1105
-
-
Kaytor, M.D.1
Byam, C.E.2
Tousey, S.K.3
Stevens, S.D.4
Zoghbi, H.Y.5
Orr, H.T.6
-
376
-
-
77649186048
-
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7
-
Janer A, Werner A, Takahashi-Fujigasaki J, Daret A, Fujigasaki H, Takada K, et al. SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. Hum Mol Genet. 2010;19:181-95.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 181-195
-
-
Janer, A.1
Werner, A.2
Takahashi-Fujigasaki, J.3
Daret, A.4
Fujigasaki, H.5
Takada, K.6
-
377
-
-
0032727617
-
Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70
-
Warrick JM, Chan HY, Gray-Board GL, Chai Y, Paulson HL, Bonini NM. Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70. Nat Genet. 1999;23:425-8.
-
(1999)
Nat Genet
, vol.23
, pp. 425-428
-
-
Warrick, J.M.1
Chan, H.Y.2
Gray-Board, G.L.3
Chai, Y.4
Paulson, H.L.5
Bonini, N.M.6
-
378
-
-
0034703863
-
Mechanisms of chaperone suppression of polyglutamine disease: Selectivity, synergy and modulation of protein solubility in Drosophila
-
Chan HY, Warrick JM, Gray-Board GL, Paulson HL, Bonini NM. Mechanisms of chaperone suppression of polyglutamine disease: selectivity, synergy and modulation of protein solubility in Drosophila . Hum Mol Genet. 2000;9:2811-20.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2811-2820
-
-
Chan, H.Y.1
Warrick, J.M.2
Gray-Board, G.L.3
Paulson, H.L.4
Bonini, N.M.5
-
379
-
-
0034629073
-
Genetic suppression of polyglutamine toxicity in Drosophila
-
Kazemi-Esfarjani P, Benzer S. Genetic suppression of polyglutamine toxicity in Drosophila. Science. 2000;287:1837 - 40.
-
(2000)
Science
, vol.287
, pp. 1837-1840
-
-
Kazemi-Esfarjani, P.1
Benzer, S.2
-
380
-
-
0035394668
-
Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice
-
Cummings CJ, Sun Y, Opal P, Antalffy B, Mestril R, Orr HT, et al. Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet. 2001;10:1511-8. (Pubitemid 32684893)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.14
, pp. 1511-1518
-
-
Cummings, C.J.1
Sun, Y.2
Opal, P.3
Antalffy, B.4
Mestril, R.5
Orr, H.T.6
Dillmann, W.H.7
Zoghbi, H.Y.8
-
381
-
-
0034761941
-
Initial process of polyglutamine aggregate formation in vivo
-
DOI 10.1046/j.1365-2443.2001.00472.x
-
Kimura Y, Koitabashi S, Kakizuka A, Fujita T. Initial process of polyglutamine aggregate formation in vivo. Genes Cells. 2001;6: 887-97. (Pubitemid 33019742)
-
(2001)
Genes to Cells
, vol.6
, Issue.10
, pp. 887-897
-
-
Kimura, Y.1
Koitabashi, S.2
Kakizuka, A.3
Fujita, T.4
-
382
-
-
0036122933
-
Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration
-
Higashiyama H, Hirose F, Yamaguchi M, Inoue YH, Fujikake N, Matsukage A, et al. Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration. Cell Death Differ. 2002;9:264-73.
-
(2002)
Cell Death Differ
, vol.9
, pp. 264-273
-
-
Higashiyama, H.1
Hirose, F.2
Yamaguchi, M.3
Inoue, Y.H.4
Fujikake, N.5
Matsukage, A.6
-
383
-
-
0034643362
-
Delaying the onset ofHuntington's inmice
-
van Dellen A, Blakemore C, Deacon R, York D, Hannan AJ. Delaying the onset ofHuntington's inmice. Nature. 2000;404:721-2.
-
(2000)
Nature
, vol.404
, pp. 721-722
-
-
Van Dellen, A.1
Blakemore, C.2
Deacon, R.3
York, D.4
Hannan, A.J.5
-
384
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996;14:285-91.
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
-
385
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996;14:269-76.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
-
386
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996;14:277-84.
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
-
387
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994;8:221-7.
-
(1994)
Nat Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
-
388
-
-
29144468586
-
Spinocerebellar ataxia type 4: Investigation of 34 candidate genes
-
DOI 10.1007/s00415-005-0892-y
-
Hellenbroich Y, Pawlack H, Rub U, Schwinger E, Zuhlke C. Spinocerebellar ataxia type 4. Investigation of 34 candidate genes. J Neurol. 2005;252:1472-5. (Pubitemid 41803836)
-
(2005)
Journal of Neurology
, vol.252
, Issue.12
, pp. 1472-1475
-
-
Hellenbroich, Y.1
Pawlack, H.2
Rub, U.3
Schwinger, E.4
Zuhlke, C.5
-
389
-
-
31744441984
-
Spectrin mutations cause spinocerebellar ataxia type 5
-
DOI 10.1038/ng1728, PII NG1728
-
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006;38:184-90. (Pubitemid 43177231)
-
(2006)
Nature Genetics
, vol.38
, Issue.2
, pp. 184-190
-
-
Ikeda, Y.1
Dick, K.A.2
Weatherspoon, M.R.3
Gincel, D.4
Armbrust, K.R.5
Dalton, J.C.6
Stevanin, G.7
Durr, A.8
Zuhlke, C.9
Burk, K.10
Clark, H.B.11
Brice, A.12
Rothstein, J.D.13
Schut, L.J.14
Day, J.W.15
Ranum, L.P.W.16
-
390
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
DOI 10.1038/ng0997-65
-
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65-70. (Pubitemid 27377533)
-
(1997)
Nature Genetics
, vol.17
, Issue.1
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
Durr, A.4
Yvert, G.5
Cancel, G.6
Weber, C.7
Imbert, G.8
Saudou, F.9
Antoniou, E.10
Drabkin, H.11
Gemmill, R.12
Giunti, P.13
Benomar, A.14
Wood, N.15
Ruberg, M.16
Agid, Y.17
Mandel, J.-L.18
Brice, A.19
-
391
-
-
0030988422
-
Evidence for a new spinocerebellar ataxia locus
-
DOI 10.1002/mds.870120322
-
Higgins JJ, Pho LT, Ide SE, Nee LE, Polymeropoulos MH. Evidence for a new spinocerebellar ataxia locus. Mov Disord. 1997;12:412-7. (Pubitemid 27216142)
-
(1997)
Movement Disorders
, vol.12
, Issue.3
, pp. 412-417
-
-
Higgins, J.J.1
Pho, L.T.2
Ide, S.E.3
Nee, L.E.4
Polymeropoulos, M.H.5
-
393
-
-
79961131300
-
Spinocerebellar ataxia 13 and 25
-
Stevanin G, Durr A. Spinocerebellar ataxia 13 and 25. Handb Clin Neurol. 2012;103:549-53.
-
(2012)
Handb Clin Neurol
, vol.103
, pp. 549-553
-
-
Stevanin, G.1
Durr, A.2
-
394
-
-
0037385006
-
Missense mutations in the regulatory domain of PKCgamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
DOI 10.1086/373883
-
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, et al. Missense mutations in the regulatory domain of PKCgamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003;72:839-49. (Pubitemid 36403304)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.4
, pp. 839-849
-
-
Chen, D.-H.1
Brkanac, Z.2
Verlinde, C.L.M.J.3
Tan, X.-J.4
Bylenok, L.5
Nochlin, D.6
Matsushita, M.7
Lipe, H.8
Wolff, J.9
Fernandez, M.10
Cimino, P.J.11
Bird, T.D.12
Raskind, W.H.13
-
395
-
-
0037042098
-
Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): Linkage to chromosome 7q22-q32
-
DOI 10.1002/ajmg.10361
-
Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, et al. Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am J Med Genet. 2002;114:450-7. (Pubitemid 34525245)
-
(2002)
American Journal of Medical Genetics - Neuropsychiatric Genetics
, vol.114
, Issue.4
, pp. 450-457
-
-
Brkanac, Z.1
Fernandez, M.2
Matsushita, M.3
Lipe, H.4
Wolff, J.5
Bird, T.D.6
Raskind, W.H.7
-
396
-
-
65149094613
-
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23
-
Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, et al. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet. 2009;84:692-7.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 692-697
-
-
Brkanac, Z.1
Spencer, D.2
Shendure, J.3
Robertson, P.D.4
Matsushita, M.5
Vu, T.6
-
397
-
-
57149108745
-
A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
-
KnightMA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, et al. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet. 2008;17:3847-53.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3847-3853
-
-
Knight, M.A.1
Hernandez, D.2
Diede, S.J.3
Dauwerse, H.G.4
Rafferty, I.5
Van De Leemput, J.6
-
398
-
-
0036830123
-
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
-
DOI 10.1002/ana.10344
-
Vuillaume I, Devos D, Schraen-Maschke S, Dina C, Lemainque A, Vasseur F, et al. A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann Neurol. 2002;52:666-70. (Pubitemid 35246875)
-
(2002)
Annals of Neurology
, vol.52
, Issue.5
, pp. 666-670
-
-
Vuillaume, I.1
Devos, D.2
Schraen-Maschke, S.3
Dina, C.4
Lemainque, A.5
Vasseur, F.6
Bocquillon, G.7
Devos, P.8
Kocinski, C.9
Marzys, C.10
Destee, A.11
Sablonniere, B.12
-
399
-
-
65849478932
-
Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)
-
Delplanque J, Devos D, Vuillaume I, De Becdelievre A, Vangelder E, Maurage CA, et al. Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21). Cerebellum. 2008;7:179-83.
-
(2008)
Cerebellum
, vol.7
, pp. 179-183
-
-
Delplanque, J.1
Devos, D.2
Vuillaume, I.3
De Becdelievre, A.4
Vangelder, E.5
Maurage, C.A.6
-
400
-
-
8144221193
-
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
-
DOI 10.1093/brain/awh276
-
Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain. 2004;127:2551-7. (Pubitemid 39472983)
-
(2004)
Brain
, vol.127
, Issue.11
, pp. 2551-2557
-
-
Verbeek, D.S.1
Van De, W.B.P.2
Wesseling, P.3
Pearson, P.L.4
Kremer, H.P.5
Sinke, R.J.6
-
401
-
-
84870806182
-
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
-
Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, et al. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012;21:5472-83.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5472-5483
-
-
Hekman, K.E.1
Yu, G.Y.2
Brown, C.D.3
Zhu, H.4
Du, X.5
Gervin, K.6
-
402
-
-
33645536601
-
Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype
-
Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype. Mov Disord. 2006;21:396-401.
-
(2006)
Mov Disord
, vol.21
, pp. 396-401
-
-
Brusse, E.1
De Koning, I.2
Maat-Kievit, A.3
Oostra, B.A.4
Heutink, P.5
Van Swieten, J.C.6
-
404
-
-
11144305273
-
Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus
-
Dudding TE, Friend K, Schofield PW, Lee S, Wilkinson IA, Richards RI. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology. 2004;63:2288-92. (Pubitemid 40024338)
-
(2004)
Neurology
, vol.63
, Issue.12
, pp. 2288-2292
-
-
Dudding, T.E.1
Friend, K.2
Schofield, P.W.3
Lee, S.4
Wilkinson, I.A.5
Richards, R.I.6
-
405
-
-
64749099376
-
A new dominantly inherited pure cerebellar ataxia, SCA 30
-
Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry. 2009;80:408-11.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 408-411
-
-
Storey, E.1
Bahlo, M.2
Fahey, M.3
Sisson, O.4
Lueck, C.J.5
Gardner, R.J.6
-
406
-
-
84862776296
-
SCA32: An autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33. Abstract
-
Jiang H, Zhu H-P, Gomez CM. SCA32: an autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33. Abstract. Mov Disord. 2010;S192.
-
(2010)
Mov Disord
-
-
Jiang, H.1
Zhu, H.-P.2
Gomez, C.M.3
-
407
-
-
0015387438
-
Erythrokeratodermia with ataxia
-
Giroux JM, Barbeau A. Erythrokeratodermia with ataxia. Arch Dermatol. 1972;106:183-8.
-
(1972)
Arch Dermatol
, vol.106
, pp. 183-188
-
-
Giroux, J.M.1
Barbeau, A.2
-
408
-
-
78649890408
-
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
-
Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, et al. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain. 2010;133:3510-8.
-
(2010)
Brain
, vol.133
, pp. 3510-3518
-
-
Wang, J.L.1
Yang, X.2
Xia, K.3
Hu, Z.M.4
Weng, L.5
Jin, X.6
-
409
-
-
84874018379
-
Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family
-
LiM, Pang SY, Song Y, Kung MH, Ho SL, Sham PC. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. Clin Genet. 2013;83:269-73.
-
(2013)
Clin Genet
, vol.83
, pp. 269-273
-
-
Li, M.1
Pang, S.Y.2
Song, Y.3
Kung, M.H.4
Ho, S.L.5
Sham, P.C.6
-
410
-
-
84878791176
-
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32
-
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolas H, Roig C, Corral J, et al. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol. 2013;70:764-71.
-
(2013)
JAMA Neurol
, vol.70
, pp. 764-771
-
-
Serrano-Munuera, C.1
Corral-Juan, M.2
Stevanin, G.3
San Nicolas, H.4
Roig, C.5
Corral, J.6
-
411
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral- pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet. 1994;6:9-13.
-
(1994)
Nat Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
-
412
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S,YanagisawaH, Sato K, Shirayama T, Ohsaki E, Bundo M, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet. 1994;6:14-8.
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
-
413
-
-
0036223574
-
Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA)
-
DOI 10.1007/s004150200034
-
Yabe I, Sasaki H, Kikuchi S, Nonaka M, Moriwaka F, Tashiro K. Late onset ataxia phenotype in dentatorubro-pallidoluysian atrophy (DRPLA). J Neurol. 2002;249:432-6. (Pubitemid 34304617)
-
(2002)
Journal of Neurology
, vol.249
, Issue.4
, pp. 432-436
-
-
Yabe, I.1
Sasaki, H.2
Kikuchi, S.3
Nonaka, M.4
Moriwaka, F.5
Tashiro, K.6
-
414
-
-
34547135675
-
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
-
DOI 10.1007/s10038-007-0154-1
-
Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, et al. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. J Hum Genet. 2007;52:643-9. (Pubitemid 47106486)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.8
, pp. 643-649
-
-
Amino, T.1
Ishikawa, K.2
Toru, S.3
Ishiguro, T.4
Sato, N.5
Tsunemi, T.6
Murata, M.7
Kobayashi, K.8
Inazawa, J.9
Toda, T.10
Mizusawa, H.11
-
415
-
-
33749852844
-
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
-
DOI 10.1212/01.wnl.0000238507.85436.20, PII 0000611420061010000044
-
Onodera Y, Aoki M, Mizuno H, Warita H, Shiga Y, Itoyama Y. Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. Neurology. 2006;67:1300-2. (Pubitemid 44563851)
-
(2006)
Neurology
, vol.67
, Issue.7
, pp. 1300-1302
-
-
Onodera, Y.1
Aoki, M.2
Mizuno, H.3
Warita, H.4
Shiga, Y.5
Itoyama, Y.6
-
416
-
-
0036237387
-
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus
-
Swartz BE, Burmeister M, Somers JT, Rottach KG, Bespalova IN, Leigh RJ. A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus. Ann N YAcad Sci. 2002;956:441-4. (Pubitemid 34457638)
-
(2002)
Annals of the New York Academy of Sciences
, vol.956
, pp. 441-444
-
-
Swartz, B.E.1
Burmeister, M.2
Somers, J.T.3
Rottach, K.G.4
Bespalova, I.N.5
Leigh, R.J.6
|