-
1
-
-
84867101874
-
Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases
-
Friedrich B., Euler P., Ziegler R., Kuhn A., Landwehrmeyer B.G., Luthi-Carter R., Weiller C., Hellwig S., Zucker B. Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases. Brain Res 2012, 1481:37-48.
-
(2012)
Brain Res
, vol.1481
, pp. 37-48
-
-
Friedrich, B.1
Euler, P.2
Ziegler, R.3
Kuhn, A.4
Landwehrmeyer, B.G.5
Luthi-Carter, R.6
Weiller, C.7
Hellwig, S.8
Zucker, B.9
-
2
-
-
39549084083
-
The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7
-
Gatchel J.R., Watase K., Thaller C., Carson J.P., Jafar-Nejad P., Shaw C., Zu T., Orr H.T., Zoghbi H.Y. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A 2008, 105:1291-1296.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 1291-1296
-
-
Gatchel, J.R.1
Watase, K.2
Thaller, C.3
Carson, J.P.4
Jafar-Nejad, P.5
Shaw, C.6
Zu, T.7
Orr, H.T.8
Zoghbi, H.Y.9
-
3
-
-
84861899904
-
Brain pathology of spinocerebellar ataxias
-
Seidel K., Siswanto S., Brunt E.R., den Dunnen W., Korf H.W., 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
-
4
-
-
84878926416
-
Pharmacological protein targets in polyglutamine diseases: mutant polypeptides and their interactors
-
Margulis B.A., Vigont V., Lazarev V.F., Kaznacheyeva E.V., Guzhova I.V. Pharmacological protein targets in polyglutamine diseases: mutant polypeptides and their interactors. FEBS Lett 2013, 587:1997-2007.
-
(2013)
FEBS Lett
, vol.587
, pp. 1997-2007
-
-
Margulis, B.A.1
Vigont, V.2
Lazarev, V.F.3
Kaznacheyeva, E.V.4
Guzhova, I.V.5
-
5
-
-
0033613212
-
Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells
-
Kazantsev A., Preisinger E., Dranovsky A., Goldgaber D., Housman D: Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells. Proc Natl Acad Sci 1999, 96:11404-11409.
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 11404-11409
-
-
Kazantsev, A.1
Preisinger, E.2
Dranovsky, A.3
Goldgaber, D.4
Housman, D.5
-
6
-
-
25844487226
-
Diseases of unstable repeat expansion: mechanisms and common principles
-
Gatchel J.R., Zoghbi H.Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet 2005, 6:743-755.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
7
-
-
7144229376
-
Spinocerebellar Ataxia Type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions
-
Holmberg M., Duyckaerts C., Dürr A., Cancel G., Gourfinkel-An I., Damier P., Faucheux B., Trottier Y., Hirsch E.C., Agid Y., et al. Spinocerebellar Ataxia Type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Hum Mol Genet 1998, 7:913-918.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 913-918
-
-
Holmberg, M.1
Duyckaerts, C.2
Dürr, 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
-
8
-
-
0033044001
-
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
-
Huynh D.P., Del Bigio M.R., Ho D.H., Pulst S.-M. Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann Neurol 1999, 45:232-241.
-
(1999)
Ann Neurol
, vol.45
, pp. 232-241
-
-
Huynh, D.P.1
Del Bigio, M.R.2
Ho, D.H.3
Pulst, S.-M.4
-
9
-
-
0037047123
-
Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis
-
Chai Y., Shao J., Miller V.M., Williams A., Paulson H.L. Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis. Proc Natl Acad Sci 2002, 99:9310-9315.
-
(2002)
Proc Natl Acad Sci
, vol.99
, pp. 9310-9315
-
-
Chai, Y.1
Shao, J.2
Miller, V.M.3
Williams, A.4
Paulson, H.L.5
-
10
-
-
0037101837
-
Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects
-
Luthi-Carter R., Strand A.D., Hanson S.A., Kooperberg C., Schilling G., La Spada A.R., Merry D.E., Young A.B., Ross C.A., Borchelt D.R., et al. Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects. Hum Mol Genet 2002, 11:1927-1937.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1927-1937
-
-
Luthi-Carter, R.1
Strand, A.D.2
Hanson, S.A.3
Kooperberg, C.4
Schilling, G.5
La Spada, A.R.6
Merry, D.E.7
Young, A.B.8
Ross, C.A.9
Borchelt, D.R.10
-
11
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
MacDonald M.E., Ambrose C.M., Duyao M.P., Myers R.H., Lin C., Srinidhi L., Barnes G., Taylor S.A., James M., Groot N., et al. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
MacDonald, M.E.1
Ambrose, C.M.2
Duyao, M.P.3
Myers, R.H.4
Lin, C.5
Srinidhi, L.6
Barnes, G.7
Taylor, S.A.8
James, M.9
Groot, N.10
-
12
-
-
0029926199
-
Reduction in enkephalin and substance P messenger RNA in the striatum of early grade Huntington's disease: a detailed cellular in situ hybridization study
-
Augood S.J., Faull R.L., Love D.R., Emson P.C. Reduction in enkephalin and substance P messenger RNA in the striatum of early grade Huntington's disease: a detailed cellular in situ hybridization study. Neuroscience 1996, 72:1023-1036.
-
(1996)
Neuroscience
, vol.72
, pp. 1023-1036
-
-
Augood, S.J.1
Faull, R.L.2
Love, D.R.3
Emson, P.C.4
-
13
-
-
84860833787
-
Gene expression and behaviour in mouse models of HD
-
Bowles K.R., Brooks S.P., Dunnett S.B., Jones L. Gene expression and behaviour in mouse models of HD. Brain Res Bull 2012, 88:276-284.
-
(2012)
Brain Res Bull
, vol.88
, pp. 276-284
-
-
Bowles, K.R.1
Brooks, S.P.2
Dunnett, S.B.3
Jones, L.4
-
14
-
-
0037150687
-
Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease
-
Dunah A.W., Jeong H., Griffin A., Kim Y.-M., Standaert D.G., Hersch S.M., Mouradian M.M., Young A.B., Tanese N., Krainc D. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 2002, 296:2238-2243.
-
(2002)
Science
, vol.296
, pp. 2238-2243
-
-
Dunah, A.W.1
Jeong, H.2
Griffin, A.3
Kim, Y.-M.4
Standaert, D.G.5
Hersch, S.M.6
Mouradian, M.M.7
Young, A.B.8
Tanese, N.9
Krainc, D.10
-
15
-
-
12944263711
-
The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription
-
Steffan J.S., Kazantsev A., Spasic-Boskovic O., Greenwald M., Zhu Y.-Z., Gohler H., Wanker E.E., Bates G.P., Housman D.E., Thompson LM: The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci 2000, 97:6763-6768.
-
(2000)
Proc Natl Acad Sci
, vol.97
, pp. 6763-6768
-
-
Steffan, J.S.1
Kazantsev, A.2
Spasic-Boskovic, O.3
Greenwald, M.4
Zhu, Y.-Z.5
Gohler, H.6
Wanker, E.E.7
Bates, G.P.8
Housman, D.E.9
Thompson, L.M.10
-
16
-
-
84872056224
-
Dysregulation of REST-regulated coding and non-coding RNAs in a cellular model of Huntington's disease
-
Soldati C., Bithell A., Johnston C., Wong K.Y., Stanton L.W., Buckley N.J. Dysregulation of REST-regulated coding and non-coding RNAs in a cellular model of Huntington's disease. J Neurochem 2013, 124:418-430.
-
(2013)
J Neurochem
, vol.124
, pp. 418-430
-
-
Soldati, C.1
Bithell, A.2
Johnston, C.3
Wong, K.Y.4
Stanton, L.W.5
Buckley, N.J.6
-
17
-
-
23644455157
-
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation
-
Cong S.Y., Pepers B.A., Evert B.O., Rubinsztein D.C., Roos R.A., van Ommen G.J., Dorsman J.C. Mutant huntingtin represses CBP, but not p300, by binding and protein degradation. Mol Cell Neurosci 2005, 30:12-23.
-
(2005)
Mol Cell Neurosci
, vol.30
, pp. 12-23
-
-
Cong, S.Y.1
Pepers, B.A.2
Evert, B.O.3
Rubinsztein, D.C.4
Roos, R.A.5
van Ommen, G.J.6
Dorsman, J.C.7
-
18
-
-
79951516056
-
A unique chromatin signature uncovers early developmental enhancers in humans
-
Rada-Iglesias A., Bajpai R., Swigut T., Brugmann S.A., Flynn R.A., Wysocka J. A unique chromatin signature uncovers early developmental enhancers in humans. Nature 2011, 470:279-283.
-
(2011)
Nature
, vol.470
, pp. 279-283
-
-
Rada-Iglesias, A.1
Bajpai, R.2
Swigut, T.3
Brugmann, S.A.4
Flynn, R.A.5
Wysocka, J.6
-
19
-
-
0035937523
-
Interference by Huntingtin and atrophin-1 with CBP-mediated transcription leading to cellular toxicity
-
Nucifora F.C., Sasaki M., Peters M.F., Huang H., Cooper J.K., Yamada M., Takahashi H., Tsuji S., Troncoso J., Dawson V.L., et al. Interference by Huntingtin and atrophin-1 with CBP-mediated transcription leading to cellular toxicity. Science 2001, 291:2423-2428.
-
(2001)
Science
, vol.291
, pp. 2423-2428
-
-
Nucifora, F.C.1
Sasaki, M.2
Peters, M.F.3
Huang, H.4
Cooper, J.K.5
Yamada, M.6
Takahashi, H.7
Tsuji, S.8
Troncoso, J.9
Dawson, V.L.10
-
20
-
-
0035919701
-
Loss of Huntingtin-mediated BDNF gene transcription in Huntington's disease
-
Zuccato C., Ciammola A., Rigamonti D., Leavitt B.R., Goffredo D., Conti L., MacDonald M.E., Friedlander R.M., Silani V., Hayden M.R., et al. Loss of Huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 2001, 293:493-498.
-
(2001)
Science
, vol.293
, pp. 493-498
-
-
Zuccato, C.1
Ciammola, A.2
Rigamonti, D.3
Leavitt, B.R.4
Goffredo, D.5
Conti, L.6
MacDonald, M.E.7
Friedlander, R.M.8
Silani, V.9
Hayden, M.R.10
-
21
-
-
84893015423
-
MeCP2: a novel Huntingtin interactor
-
McFarland K.N., Huizenga M.N., Darnell S.B., Sangrey G.R., Berezovska O., Cha J.H., Outeiro T.F., Sadri-Vakili G. MeCP2: a novel Huntingtin interactor. Hum Mol Genet 2014, 23:1036-1044.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1036-1044
-
-
McFarland, K.N.1
Huizenga, M.N.2
Darnell, S.B.3
Sangrey, G.R.4
Berezovska, O.5
Cha, J.H.6
Outeiro, T.F.7
Sadri-Vakili, G.8
-
22
-
-
34447312020
-
ESET/SETDB1 gene expression and histone H3 (K9) trimethylation in Huntington's disease
-
Ryu H., Lee J., Hagerty S.W., Soh B.Y., McAlpin S.E., Cormier K.A., Smith K.M., Ferrante R.J. ESET/SETDB1 gene expression and histone H3 (K9) trimethylation in Huntington's disease. Proc Natl Acad Sci U S A 2006, 103:19176-19181.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 19176-19181
-
-
Ryu, H.1
Lee, J.2
Hagerty, S.W.3
Soh, B.Y.4
McAlpin, S.E.5
Cormier, K.A.6
Smith, K.M.7
Ferrante, R.J.8
-
23
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991, 352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
24
-
-
8344272750
-
Coregulator recruitment and histone modifications in transcriptional regulation by the androgen receptor
-
Kang Z., Janne O.A., Palvimo J.J. Coregulator recruitment and histone modifications in transcriptional regulation by the androgen receptor. Mol Endocrinol 2004, 18:2633-2648.
-
(2004)
Mol Endocrinol
, vol.18
, pp. 2633-2648
-
-
Kang, Z.1
Janne, O.A.2
Palvimo, J.J.3
-
25
-
-
0029015557
-
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
-
Yazawa I., Nukina N., Hashida H., Goto J., Yamada M., Kanazawa I. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nat Genet 1995, 10:99-103.
-
(1995)
Nat Genet
, vol.10
, pp. 99-103
-
-
Yazawa, I.1
Nukina, N.2
Hashida, H.3
Goto, J.4
Yamada, M.5
Kanazawa, I.6
-
26
-
-
0035900182
-
Neuronal nuclear alterations in dentatorubral-pallidoluysian atrophy: ultrastructural and morphometric studies of the cerebellar granule cells
-
Takahashi H., Egawa S., Piao Y.-S., Hayashi S., Yamada M., Shimohata T., Oyanagi K., Tsuji S. Neuronal nuclear alterations in dentatorubral-pallidoluysian atrophy: ultrastructural and morphometric studies of the cerebellar granule cells. Brain Res 2001, 919:12-19.
-
(2001)
Brain Res
, vol.919
, pp. 12-19
-
-
Takahashi, H.1
Egawa, S.2
Piao, Y.-S.3
Hayashi, S.4
Yamada, M.5
Shimohata, T.6
Oyanagi, K.7
Tsuji, S.8
-
27
-
-
59049084255
-
Atrophin proteins: an overview of a new class of nuclear receptor corepressors
-
Wang L., Tsai C.C. 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
-
28
-
-
0034605071
-
Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription
-
Wood J.D., Nucifora F.C., Duan K., Zhang C., Wang J., Kim Y., Schilling G., Sacchi N., Liu J.M., Ross C.A. 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, 150:939-948.
-
(2000)
J Cell Biol
, vol.150
, pp. 939-948
-
-
Wood, J.D.1
Nucifora, F.C.2
Duan, K.3
Zhang, C.4
Wang, J.5
Kim, Y.6
Schilling, G.7
Sacchi, N.8
Liu, J.M.9
Ross, C.A.10
-
29
-
-
12144287536
-
A map of WW domain family interactions
-
Hu H., Columbus J., Zhang Y., Wu D., Lian L., Yang S., Goodwin J., Luczak C., Carter M., Chen L., et al. A map of WW domain family interactions. Proteomics 2004, 4:643-655.
-
(2004)
Proteomics
, vol.4
, pp. 643-655
-
-
Hu, H.1
Columbus, J.2
Zhang, Y.3
Wu, D.4
Lian, L.5
Yang, S.6
Goodwin, J.7
Luczak, C.8
Carter, M.9
Chen, L.10
-
30
-
-
36248989248
-
The Nedd4-like family of E3 ubiquitin ligases and cancer
-
Chen C., Matesic L.E. The Nedd4-like family of E3 ubiquitin ligases and cancer. Cancer Metastasis Rev 2007, 26:587-604.
-
(2007)
Cancer Metastasis Rev
, vol.26
, pp. 587-604
-
-
Chen, C.1
Matesic, L.E.2
-
31
-
-
0031807249
-
Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins
-
Wood J.D., Yuan J., Margolis R.L., Colomer V., Duan K., Kushi J., Kaminsky Z., Kleiderlein J.J., Sharp A.H., Ross C.A. Atrophin-1, the DRPLA gene product, interacts with two families of WW domain-containing proteins. Mol Cell Neurosci 1998, 11:149-160.
-
(1998)
Mol Cell Neurosci
, vol.11
, pp. 149-160
-
-
Wood, J.D.1
Yuan, J.2
Margolis, R.L.3
Colomer, V.4
Duan, K.5
Kushi, J.6
Kaminsky, Z.7
Kleiderlein, J.J.8
Sharp, A.H.9
Ross, C.A.10
-
32
-
-
33646687963
-
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
-
Lim J., Hao T., Shaw C., Patel A.J., Szabo G., Rual J.F., Fisk C.J., Li N., Smolyar A., Hill D.E., et al. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 2006, 125:801-814.
-
(2006)
Cell
, vol.125
, 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
-
33
-
-
84881260172
-
An out-of-frame overlapping reading frame in the ataxin-1 coding sequence encodes a novel ataxin-1 interacting protein
-
Bergeron D., Lapointe C., Bissonnette C., Tremblay G., Motard J., Roucou X. An out-of-frame overlapping reading frame in the ataxin-1 coding sequence encodes a novel ataxin-1 interacting protein. J Biol Chem 2013, 288:21824-21835.
-
(2013)
J Biol Chem
, vol.288
, pp. 21824-21835
-
-
Bergeron, D.1
Lapointe, C.2
Bissonnette, C.3
Tremblay, G.4
Motard, J.5
Roucou, X.6
-
34
-
-
0034597833
-
Identification of genes that modify ataxin-1-induced neurodegeneration
-
Fernandez-Funez P., Nino-Rosales M.L., de Gouyon B., She W.C., Luchak J.M., Martinez P., Turiegano E., Benito J., Capovilla M., Skinner P.J., et al. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 2000, 408:101-106.
-
(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
Turiegano, E.7
Benito, J.8
Capovilla, M.9
Skinner, P.J.10
-
35
-
-
79955544001
-
Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway
-
Tong X., Gui H., Jin F., Heck B.W., Lin P., Ma J., Fondell J.D., Tsai C.C. Ataxin-1 and Brother of ataxin-1 are components of the Notch signalling pathway. EMBO Rep 2011, 12:428-435.
-
(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
Fondell, J.D.7
Tsai, C.C.8
-
36
-
-
18444403420
-
Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death
-
Okazawa H., Rich T., Chang A., Lin X., Waragai M., Kajikawa M., Enokido Y., Komuro A., Kato S., Shibata M., et al. Interaction between mutant ataxin-1 and PQBP-1 affects transcription and cell death. Neuron 2002, 34:701-713.
-
(2002)
Neuron
, vol.34
, 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
-
37
-
-
84881576566
-
A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1
-
Sanchez I., Pinol P., Corral-Juan M., Pandolfo M., Matilla-Duenas 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, 22:3425-3437.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 3425-3437
-
-
Sanchez, I.1
Pinol, P.2
Corral-Juan, M.3
Pandolfo, M.4
Matilla-Duenas, A.5
-
38
-
-
0042470618
-
Protein phosphatase 2A activity affects histone H3 phosphorylation and transcription in Drosophila melanogaster
-
Nowak S.J., Pai C.Y., Corces V.G. Protein phosphatase 2A activity affects histone H3 phosphorylation and transcription in Drosophila melanogaster. Mol Cell Biol 2003, 23:6129-6138.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 6129-6138
-
-
Nowak, S.J.1
Pai, C.Y.2
Corces, V.G.3
-
39
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden A.C., Kim H.J., Hart M.P., Chen-Plotkin A.S., Johnson B.S., Fang X., Armakola M., Geser F., Greene R., Lu M.M., et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466:1069-1075.
-
(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
Armakola, M.7
Geser, F.8
Greene, R.9
Lu, M.M.10
-
40
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
Van Damme P., Veldink J.H., van Blitterswijk M., Corveleyn A., van Vught P.W., Thijs V., Dubois B., Matthijs G., van den Berg L.H., Robberecht W. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011, 76:2066-2072.
-
(2011)
Neurology
, vol.76
, pp. 2066-2072
-
-
Van Damme, P.1
Veldink, J.H.2
van Blitterswijk, M.3
Corveleyn, A.4
van Vught, P.W.5
Thijs, V.6
Dubois, B.7
Matthijs, G.8
van den Berg, L.H.9
Robberecht, W.10
-
41
-
-
0034701797
-
A novel protein with RNA-binding motifs interacts with ataxin-2
-
Shibata H., Huynh D.P., Pulst S-M: A novel protein with RNA-binding motifs interacts with ataxin-2. Hum Mol Genet 2000, 9:1303-1313.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1303-1313
-
-
Shibata, H.1
Huynh, D.P.2
Pulst, S.-M.3
-
42
-
-
34247229733
-
Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules
-
Nonhoff U., Ralser M., Welzel F., Piccini I., Balzereit D., Yaspo M.L., Lehrach H., Krobitsch S. Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol Biol Cell 2007, 18:1385-1396.
-
(2007)
Mol Biol Cell
, vol.18
, pp. 1385-1396
-
-
Nonhoff, U.1
Ralser, M.2
Welzel, F.3
Piccini, I.4
Balzereit, D.5
Yaspo, M.L.6
Lehrach, H.7
Krobitsch, S.8
-
43
-
-
33747884761
-
Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes
-
Satterfield T.F., Pallanck L.J. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet 2006, 15:2523-2532.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2523-2532
-
-
Satterfield, T.F.1
Pallanck, L.J.2
-
44
-
-
84877741071
-
ATAXIN-2 activates period translation to sustain circadian rhythms in Drosophila
-
Lim C., Allada R: ATAXIN-2 activates period translation to sustain circadian rhythms in Drosophila. Science 2013, 340:875-879.
-
(2013)
Science
, vol.340
, pp. 875-879
-
-
Lim, C.1
Allada, R.2
-
45
-
-
84877733547
-
A role for Drosophila ATX2 in activation of PER translation and Circadian behavior
-
Zhang Y., Ling J., Yuan C., Dubruille R., Emery P. A role for Drosophila ATX2 in activation of PER translation and Circadian behavior. Science 2013, 340:879-882.
-
(2013)
Science
, vol.340
, pp. 879-882
-
-
Zhang, Y.1
Ling, J.2
Yuan, C.3
Dubruille, R.4
Emery, P.5
-
46
-
-
0034787294
-
A survey of spinocerebellar ataxia in South Brazil-66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations
-
Jardim L.B., Silveira I., Pereira M.L., Ferro A., Alonso I., do Ceu Moreira M., Mendonca P., Ferreirinha F., Sequeiros J., Giugliani R. A survey of spinocerebellar ataxia in South Brazil-66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. J Neurol 2001, 248:870-876.
-
(2001)
J Neurol
, vol.248
, pp. 870-876
-
-
Jardim, L.B.1
Silveira, I.2
Pereira, M.L.3
Ferro, A.4
Alonso, I.5
do Ceu Moreira, M.6
Mendonca, P.7
Ferreirinha, F.8
Sequeiros, J.9
Giugliani, R.10
-
47
-
-
33750962224
-
Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation
-
Evert B.O., Araujo J., Vieira-Saecker A.M., de Vos R.A., Harendza S., Klockgether T., Wullner U. Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation. J Neurosci 2006, 26:11474-11486.
-
(2006)
J Neurosci
, vol.26
, pp. 11474-11486
-
-
Evert, B.O.1
Araujo, J.2
Vieira-Saecker, A.M.3
de Vos, R.A.4
Harendza, S.5
Klockgether, T.6
Wullner, U.7
-
48
-
-
77957879514
-
Understanding the role of the Josephin domain in the PolyUb binding and cleavage properties of ataxin-3
-
Nicastro G., Todi S.V., Karaca E., Bonvin A.M., Paulson H.L., Pastore A. Understanding the role of the Josephin domain in the PolyUb binding and cleavage properties of ataxin-3. PLoS One 2010, 5:e12430.
-
(2010)
PLoS One
, vol.5
-
-
Nicastro, G.1
Todi, S.V.2
Karaca, E.3
Bonvin, A.M.4
Paulson, H.L.5
Pastore, A.6
-
49
-
-
15444372240
-
The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation
-
Burnett B.G., Pittman R.N. The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation. Proc Natl Acad Sci U S A 2005, 102:4330-4335.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 4330-4335
-
-
Burnett, B.G.1
Pittman, R.N.2
-
50
-
-
0042691818
-
Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis
-
Doss-Pepe E.W., Stenroos E.S., Johnson W.G., Madura K. Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis. Mol Cell Biol 2003, 23:6469-6483.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 6469-6483
-
-
Doss-Pepe, E.W.1
Stenroos, E.S.2
Johnson, W.G.3
Madura, K.4
-
51
-
-
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., Pfeifer A., Klockgether T., Wuellner U., Evert B.O. FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3. Hum Mol Genet 2011, 20:2928-2941.
-
(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
Pfeifer, A.7
Klockgether, T.8
Wuellner, U.9
Evert, B.O.10
-
52
-
-
84879992592
-
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6
-
Du X., Wang J., Zhu H., Rinaldo L., Lamar K.M., Palmenberg A.C., Hansel C., Gomez C.M. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell 2013, 154:118-133.
-
(2013)
Cell
, vol.154
, pp. 118-133
-
-
Du, X.1
Wang, J.2
Zhu, H.3
Rinaldo, L.4
Lamar, K.M.5
Palmenberg, A.C.6
Hansel, C.7
Gomez, C.M.8
-
53
-
-
50149093030
-
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels
-
Watase K., Barrett C.F., Miyazaki T., Ishiguro T., Ishikawa K., Hu Y., Unno T., Sun Y., Kasai S., Watanabe M., 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 2008, 105:11987-11992.
-
(2008)
Proc Natl Acad Sci
, vol.105
, pp. 11987-11992
-
-
Watase, K.1
Barrett, C.F.2
Miyazaki, T.3
Ishiguro, T.4
Ishikawa, K.5
Hu, Y.6
Unno, T.7
Sun, Y.8
Kasai, S.9
Watanabe, M.10
-
54
-
-
77953024102
-
The carboxy-terminal fragment of α1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells
-
Ishiguro T., Ishikawa K., Takahashi M., Obayashi M., Amino T., Sato N., Sakamoto M., Fujigasaki H., Tsuruta F., Dolmetsch R., et al. The carboxy-terminal fragment of α1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells. Acta Neuropathol 2010, 119:447-464.
-
(2010)
Acta Neuropathol
, vol.119
, pp. 447-464
-
-
Ishiguro, T.1
Ishikawa, K.2
Takahashi, M.3
Obayashi, M.4
Amino, T.5
Sato, N.6
Sakamoto, M.7
Fujigasaki, H.8
Tsuruta, F.9
Dolmetsch, R.10
-
56
-
-
0037464386
-
Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6
-
Kubodera T., Yokota T., Ohwada K., Ishikawa K., Miura H., Matsuoka T., Mizusawa H. Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6. Neurosci Lett 2003, 341:74-78.
-
(2003)
Neurosci Lett
, vol.341
, pp. 74-78
-
-
Kubodera, T.1
Yokota, T.2
Ohwada, K.3
Ishikawa, K.4
Miura, H.5
Matsuoka, T.6
Mizusawa, H.7
-
57
-
-
46349107379
-
Toxicity and endocytosis of spinocerebellar ataxia type 6 polyglutamine domains: role of myosin IIB†
-
Marquèze-Pouey B., Martin-Moutot N., Sakkou-Norton M., Lévêque C., Ji Y., Cornet V., Hsiao W.L., Seagar M. Toxicity and endocytosis of spinocerebellar ataxia type 6 polyglutamine domains: role of myosin IIB†. Traffic 2008, 9:1088-1100.
-
(2008)
Traffic
, vol.9
, pp. 1088-1100
-
-
Marquèze-Pouey, B.1
Martin-Moutot, N.2
Sakkou-Norton, M.3
Lévêque, C.4
Ji, Y.5
Cornet, V.6
Hsiao, W.L.7
Seagar, M.8
-
58
-
-
84874732300
-
v 2.1-CTF) aggregate is sufficient to cause cell death
-
v 2.1-CTF) aggregate is sufficient to cause cell death. PLoS One 2013, 8:e50121.
-
(2013)
PLoS One
, vol.8
-
-
Takahashi, M.1
Obayashi, M.2
Ishiguro, T.3
Sato, N.4
Niimi, Y.5
Ozaki, K.6
Mogushi, K.7
Mahmut, Y.8
Tanaka, H.9
Tsuruta, F.10
-
59
-
-
79960407300
-
Post-transcription initiation function of the ubiquitous SAGA complex in tissue-specific gene activation
-
Weake V.M., Dyer J.O., Seidel C., Box A., Swanson S.K., Peak A., Florens L., Washburn M.P., Abmayr S.M., Workman J.L. Post-transcription initiation function of the ubiquitous SAGA complex in tissue-specific gene activation. Genes Dev 2011, 25:1499-1509.
-
(2011)
Genes Dev
, vol.25
, pp. 1499-1509
-
-
Weake, V.M.1
Dyer, J.O.2
Seidel, C.3
Box, A.4
Swanson, S.K.5
Peak, A.6
Florens, L.7
Washburn, M.P.8
Abmayr, S.M.9
Workman, J.L.10
-
60
-
-
80052597874
-
The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements
-
Lang G., Bonnet J., Umlauf D., Karmodiya K., Koffler J., Stierle M., Devys D., Tora L. The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements. Mol Cell Biol 2011, 31:3734-3744.
-
(2011)
Mol Cell Biol
, vol.31
, pp. 3734-3744
-
-
Lang, G.1
Bonnet, J.2
Umlauf, D.3
Karmodiya, K.4
Koffler, J.5
Stierle, M.6
Devys, D.7
Tora, L.8
-
62
-
-
77953060092
-
Structural insights into the assembly and function of the SAGA deubiquitinating module
-
Samara N.L., Datta A.B., Berndsen C.E., Zhang X., Yao T., Cohen R.E., Wolberger C. Structural insights into the assembly and function of the SAGA deubiquitinating module. Science 2010, 328:1025-1029.
-
(2010)
Science
, vol.328
, pp. 1025-1029
-
-
Samara, N.L.1
Datta, A.B.2
Berndsen, C.E.3
Zhang, X.4
Yao, T.5
Cohen, R.E.6
Wolberger, C.7
-
63
-
-
77952519938
-
Structural basis for assembly and activation of the heterotetrameric SAGA histone H2B deubiquitinase module
-
Kohler A., Zimmerman E., Schneider M., Hurt E., Zheng N. Structural basis for assembly and activation of the heterotetrameric SAGA histone H2B deubiquitinase module. Cell 2010, 141:606-617.
-
(2010)
Cell
, vol.141
, pp. 606-617
-
-
Kohler, A.1
Zimmerman, E.2
Schneider, M.3
Hurt, E.4
Zheng, N.5
-
64
-
-
0034798064
-
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype
-
van de Warrenburg B.P., Frenken C.W., Ausems M.G., Kleefstra T., Sinke R.J., Knoers N.V., Kremer H.P. Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. J Neurol 2001, 248:911-914.
-
(2001)
J Neurol
, vol.248
, pp. 911-914
-
-
van de Warrenburg, B.P.1
Frenken, C.W.2
Ausems, M.G.3
Kleefstra, T.4
Sinke, R.J.5
Knoers, N.V.6
Kremer, H.P.7
-
65
-
-
20844441094
-
Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity
-
McMahon S.J., Pray-Grant M.G., Schieltz D., Yates J.R., Grant P.A. Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci U S A 2005, 102:8478-8482.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 8478-8482
-
-
McMahon, S.J.1
Pray-Grant, M.G.2
Schieltz, D.3
Yates, J.R.4
Grant, P.A.5
-
66
-
-
20844444637
-
Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration
-
Palhan V.B., Chen S., Peng G.H., Tjernberg A., Gamper A.M., Fan Y., Chait B.T., La Spada A.R., Roeder R.G. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci U S A 2005, 102:8472-8477.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 8472-8477
-
-
Palhan, V.B.1
Chen, S.2
Peng, G.H.3
Tjernberg, A.4
Gamper, A.M.5
Fan, Y.6
Chait, B.T.7
La Spada, A.R.8
Roeder, R.G.9
-
67
-
-
84888328883
-
Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7
-
Burke T.L., Miller J.L., Grant PA: Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7. J Biol Chem 2013, 288:34266-34275.
-
(2013)
J Biol Chem
, vol.288
, pp. 34266-34275
-
-
Burke, T.L.1
Miller, J.L.2
Grant, P.A.3
-
68
-
-
84871823260
-
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes
-
McCullough S.D., Xu X., Dent S.Y., Bekiranov S., Roeder R.G., Grant P.A. Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. Proc Natl Acad Sci U S A 2012, 109:21319-21324.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 21319-21324
-
-
McCullough, S.D.1
Xu, X.2
Dent, S.Y.3
Bekiranov, S.4
Roeder, R.G.5
Grant, P.A.6
-
69
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., Ikeda S., Tsuji S., Kanazawa I. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 2001, 10:1441-1448.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.7
Tsuji, S.8
Kanazawa, I.9
-
70
-
-
79959695334
-
Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor
-
Huang S., Ling J.J., Yang S., Li X.J., Li S. Neuronal expression of TATA box-binding protein containing expanded polyglutamine in knock-in mice reduces chaperone protein response by impairing the function of nuclear factor-Y transcription factor. Brain 2011, 134:1943-1958.
-
(2011)
Brain
, vol.134
, pp. 1943-1958
-
-
Huang, S.1
Ling, J.J.2
Yang, S.3
Li, X.J.4
Li, S.5
-
71
-
-
43749091298
-
Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity
-
Friedman M.J., Wang C.E., Li X.J., Li S. Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity. J Biol Chem 2008, 283:8283-8290.
-
(2008)
J Biol Chem
, vol.283
, pp. 8283-8290
-
-
Friedman, M.J.1
Wang, C.E.2
Li, X.J.3
Li, S.4
|