-
1
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr, H.T., Chung, M.Y., Banfi, S., Kwiatkowski, T.J. Jr, Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P. and Zoghbi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genet., 4, 221-226.
-
(1993)
Nat. Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski T.J., Jr.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.9
Zoghbi, H.Y.10
-
2
-
-
34547692622
-
Trinucleotide repeat disorders
-
Orr, H.T. and Zoghbi, H.Y. (2007) Trinucleotide repeat disorders. Ann. Rev. Neurosci., 30, 575-621.
-
(2007)
Ann. Rev. Neurosci.
, vol.30
, pp. 575-621
-
-
Orr, H.T.1
Zoghbi, H.Y.2
-
3
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio, A., Koshy, B., Armstrong, D., Antalffy, B., Orr, H.T. and Zoghbi, H.Y. (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat. Genet., 10, 94-98.
-
(1995)
Nat. Genet.
, vol.10
, pp. 94-98
-
-
Servadio, A.1
Koshy, B.2
Armstrong, D.3
Antalffy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
4
-
-
0030058227
-
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)
-
Banfi, S., Servadio, A., Chung, M., Capozzoli, F., Duvick, L.A., Elde, R., Zoghbi, H.Y. and Orr, H.T. (1996) Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum. Mol. Genet., 5, 33-40.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 33-40
-
-
Banfi, S.1
Servadio, A.2
Chung, M.3
Capozzoli, F.4
Duvick, L.A.5
Elde, R.6
Zoghbi, H.Y.7
Orr, H.T.8
-
5
-
-
17844392364
-
The pathogenesis of spinocerebellar ataxia
-
Koeppen, A.H. (2005) The pathogenesis of spinocerebellar ataxia. Cerebellum, 4, 62-73.
-
(2005)
Cerebellum
, vol.4
, pp. 62-73
-
-
Koeppen, A.H.1
-
6
-
-
0029175420
-
Spinocerebellar ataxia type 1
-
Zoghbi, H.Y. (1995) Spinocerebellar ataxia type 1. Clin. Neurosci., 3, 5-11.
-
(1995)
Clin. Neurosci.
, vol.3
, pp. 5-11
-
-
Zoghbi, H.Y.1
-
7
-
-
23944438950
-
The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/senseless proteins
-
Tsuda, H., Jafar-Nejad, H., Patel, A.J., Sun, Y., Chen, H.K., Rose, M.F., Venken, K.J., Botas, J., Orr, H.T., Bellen, H.J. et al. (2005) The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/senseless proteins. Cell, 122, 633-644.
-
(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
Venken, K.J.7
Botas, J.8
Orr, H.T.9
Bellen, H.J.10
-
8
-
-
25144468986
-
Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1
-
Mizutani, A., Wang, L., Rajan, H., Vig, P., Alaynick, W., Thaler, J. and Tsai, C.-C. (2005) Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1. EMBO J., 24, 3339-3351.
-
(2005)
EMBO J.
, vol.24
, pp. 3339-3351
-
-
Mizutani, A.1
Wang, L.2
Rajan, H.3
Vig, P.4
Alaynick, W.5
Thaler, J.6
Tsai, C.-C.7
-
9
-
-
33845657872
-
ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology
-
Lam, Y.C., Bowman, A.B., Jafar-Nejad, P., Lim, J., Richman, R., Fryer, J.D., Hyun, E.D., Duvick, L.A., Orr, H.T., Botas, J. et al. (2006) ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell, 127, 1335-1347.
-
(2006)
Cell
, vol.127
, 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
-
10
-
-
34548452053
-
Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1
-
Goold, R., Hubank, M., Hunt, A., Holton, J., Menon, R.P., Revesz, T., Pandolfo, M. and Matilla-Duenas, A. (2007) Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1. Hum. Mol. Genet., 16, 2122-2134.
-
(2007)
Hum. Mol. Genet.
, vol.16
, 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
-
11
-
-
33750815242
-
RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice
-
Serra, H.G., Duvick, L., Zu, T., Carlson, K., Stevens, S., Jorgensen, N., Lysholm, A., Burright, E., Zoghbi, H.Y., Clark, H.B. et al. (2006) RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell, 127, 697-708.
-
(2006)
Cell
, vol.127
, 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
-
12
-
-
42049086100
-
Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
-
Lim, J., Crespo-Barreto, J., Jafar-Nejad, P., Bowman, A.B., Richman, R., Hill, D.E., Orr, H.T. and Zoghbi, H.Y. (2008) Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature, 452, 713-719.
-
(2008)
Nature
, vol.452
, pp. 713-719
-
-
Lim, J.1
Crespo-Barreto, J.2
Jafar-Nejad, P.3
Bowman, A.B.4
Richman, R.5
Hill, D.E.6
Orr, H.T.7
Zoghbi, H.Y.8
-
13
-
-
0032475941
-
Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice
-
Klement, I.A., Skinner, P.J., Kaytor, M.D., Yi, H., Hersch, S.M., Clark, H.B., Zoghbi, H.Y. and Orr, H.T. (1998) Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell, 95, 41-53.
-
(1998)
Cell
, vol.95
, 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
-
14
-
-
14044266141
-
RNA association and nucleocytoplasmic shuttling by ataxin-1
-
Irwin, S., Vandelft, M., Howell, J.L., Graczyk, J., Orr, H.T. and Truant, R. (2005) RNA association and nucleocytoplasmic shuttling by ataxin-1. J. Cell Sci., 118, 233-242.
-
(2005)
J. Cell Sci.
, vol.118
, pp. 233-242
-
-
Irwin, S.1
Vandelft, M.2
Howell, J.L.3
Graczyk, J.4
Orr, H.T.5
Truant, R.6
-
15
-
-
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, A., Ramos, A., Jodice, C., Kioussis, D. and Pastore, A. (2003) The AXH module: an independently folded domain common to ataxin-1 and HBP1. FEBS Lett., 551, 107-112.
-
(2003)
FEBS Lett.
, vol.551
, pp. 107-112
-
-
de Chiara, C.1
Giannini, C.2
Adinolfi, S.3
de Boer, J.4
Guida, A.5
Ramos, A.6
Jodice, C.7
Kioussis, D.8
Pastore, A.9
-
16
-
-
0942276360
-
The structure of the AXH domain of spinocerebellar ataxin-1
-
Chen, Y.W., Allen, M.D., Veprintsev, D.B., Lowe, J. and Bycroft, M. (2004) The structure of the AXH domain of spinocerebellar ataxin-1. J. Biol. Chem., 279, 3758-3765.
-
(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
-
17
-
-
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, H.G., Zoghbi, H.Y. and Orr, H.T. (2001) 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., 10, 25-30.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 25-30
-
-
Yue, S.1
Serra, H.G.2
Zoghbi, H.Y.3
Orr, H.T.4
-
18
-
-
0030933679
-
Identification of a self-association region within the SCA1 gene product, ataxin-1
-
Burright, E.N., Davidson, J.D., Duvick, L.A., Koshy, B., Zoghbi, H.Y. and Orr, H.T. (1997) Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum. Mol. Genet., 6, 513-518.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 513-518
-
-
Burright, E.N.1
Davidson, J.D.2
Duvick, L.A.3
Koshy, B.4
Zoghbi, H.Y.5
Orr, H.T.6
-
19
-
-
0037726598
-
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1
-
Chen, H.-K., Fernandez-Funez, P., Acevedo, S.F., Lam, Y.C., Kaytor, M.D., Fernandez, M.H., Aitken, A., Skoulakis, E.M.C., Orr, H.T., Botas, J. et al. (2003) Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell, 113, 457-468.
-
(2003)
Cell
, vol.113
, pp. 457-468
-
-
Chen, H.-K.1
Fernandez-Funez, P.2
Acevedo, S.F.3
Lam, Y.C.4
Kaytor, M.D.5
Fernandez, M.H.6
Aitken, A.7
Skoulakis, E.M.C.8
Orr, H.T.9
Botas, J.10
-
20
-
-
0037846441
-
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
-
Emamian, E.S., Kaytor, M.D., Duvick, L.A., Zu, T., Tousey, S.K., Zoghbi, H.Y., Clark, H.B. and Orr, H.T. (2003) Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron, 38, 375-387.
-
(2003)
Neuron
, vol.38
, 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
-
21
-
-
77957007354
-
SCA1-like disease in mice expressing wild type ataxin-1 with a serine to aspartic acid replacement at residue 776
-
Duvick, L., Barnes, J., Ebner, B., Agrawal, S., Andresen, M., Lim, J., Giesler, G.J., Zoghbi, H.Y. and Orr, H.T. (2010) SCA1-like disease in mice expressing wild type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron, 67, 929-935.
-
(2010)
Neuron
, vol.67
, pp. 929-935
-
-
Duvick, L.1
Barnes, J.2
Ebner, B.3
Agrawal, S.4
Andresen, M.5
Lim, J.6
Giesler, G.J.7
Zoghbi, H.Y.8
Orr, H.T.9
-
22
-
-
0029163222
-
SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell, 82, 937-948.
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
23
-
-
70350743144
-
Homozygous disruption of the Tip60 gene causes early embryonic lethality
-
Hu, Y., Fisher, J.B., Kopprowski, S., McAllister, D., Kim, M.-S. and Lough, J. (2009) Homozygous disruption of the Tip60 gene causes early embryonic lethality. Develop. Dynam., 238, 2912-2921.
-
(2009)
Develop. Dynam.
, vol.238
, pp. 2912-2921
-
-
Hu, Y.1
Fisher, J.B.2
Kopprowski, S.3
McAllister, D.4
Kim, M.-S.5
Lough, J.6
-
24
-
-
5444248681
-
Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice
-
Zu, T., Duvick, L.A., Kaytor, M.D., Berlinger, M.S., Zoghbi, H.Y., Clark, H.B. and Orr, H.T. (2004) Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J. Neurosci., 24, 8853-8861.
-
(2004)
J. Neurosci.
, vol.24
, pp. 8853-8861
-
-
Zu, T.1
Duvick, L.A.2
Kaytor, M.D.3
Berlinger, M.S.4
Zoghbi, H.Y.5
Clark, H.B.6
Orr, H.T.7
-
25
-
-
0030864463
-
Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations
-
Clark, H.B., Burright, E.N., Yunis, W.S., Larson, S., Wilcox, C., Hartman, B., Matilla, A., Zoghbi, H.Y. and Orr, H.T. (1997) Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J. Neurosci., 17, 7385-7395.
-
(1997)
J. Neurosci.
, vol.17
, pp. 7385-7395
-
-
Clark, H.B.1
Burright, E.N.2
Yunis, W.S.3
Larson, S.4
Wilcox, C.5
Hartman, B.6
Matilla, A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
26
-
-
0013198358
-
The expression of vesicular glutamate transporters defines two classes of excitatory synapse
-
Fremeau, R.T., Troyer, M.D., Pahner, I., Nygaard, G.O., Tran, C.H., Reimer, R.J., Bellocchio, E.E., Fortin, D., Storm-Mathisen, J. and Edwards, R.H. (2001) The expression of vesicular glutamate transporters defines two classes of excitatory synapse. Neuron, 31, 247-260.
-
(2001)
Neuron
, vol.31
, pp. 247-260
-
-
Fremeau, R.T.1
Troyer, M.D.2
Pahner, I.3
Nygaard, G.O.4
Tran, C.H.5
Reimer, R.J.6
Bellocchio, E.E.7
Fortin, D.8
Storm-Mathisen, J.9
Edwards, R.H.10
-
27
-
-
0001152108
-
Staggerer, a new mutation in the mouse affecting the cerebellum
-
Sidman, R.L., Lane, P.W. and Dickie, M.M. (1962) Staggerer, a new mutation in the mouse affecting the cerebellum. Science, 137, 610-612.
-
(1962)
Science
, vol.137
, pp. 610-612
-
-
Sidman, R.L.1
Lane, P.W.2
Dickie, M.M.3
-
28
-
-
13344270920
-
Disruption of the nuclear hormone receptor RORalpha in staggerer mice
-
Hamilton, B.A., Frankel, W.N., Kerrebrock, A.W., Hawkins, T.L., FitzHugh, W., Kusumi, K., Russell, L.B., Mueller, K.L., van Berkel, V., Birren, B.W. et al. (1996) Disruption of the nuclear hormone receptor RORalpha in staggerer mice. Nature, 379, 736-739.
-
(1996)
Nature
, vol.379
, pp. 736-739
-
-
Hamilton, B.A.1
Frankel, W.N.2
Kerrebrock, A.W.3
Hawkins, T.L.4
FitzHugh, W.5
Kusumi, K.6
Russell, L.B.7
Mueller, K.L.8
van Berkel, V.9
Birren, B.W.10
-
29
-
-
0347362910
-
RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways
-
Gold, D.A., Baek, S.H., Schork, N.J., Rose, D.W., Larsen, D.D., Sachs, B.D., Rosenfeld, M.G. and Hamilton, B.A. (2003) RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways. Neuron, 40, 1119-1131.
-
(2003)
Neuron
, vol.40
, pp. 1119-1131
-
-
Gold, D.A.1
Baek, S.H.2
Schork, N.J.3
Rose, D.W.4
Larsen, D.D.5
Sachs, B.D.6
Rosenfeld, M.G.7
Hamilton, B.A.8
-
30
-
-
77957360461
-
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis
-
Crespo-Barreto, J.M., Fryer, J.D., Shaw, C.A., Orr, H.T. and Zoghbi, H.Y. (2010) Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet., 6, e1001021.
-
(2010)
PLoS Genet.
, vol.6
-
-
Crespo-Barreto, J.M.1
Fryer, J.D.2
Shaw, C.A.3
Orr, H.T.4
Zoghbi, H.Y.5
-
31
-
-
0037242383
-
The MYST family of histone acetyltransferases
-
Utley, R.T. and Cote, J. (2003) The MYST family of histone acetyltransferases. Curr. Top. Microbiol. Immunol., 274, 203-236.
-
(2003)
Curr. Top. Microbiol. Immunol.
, vol.274
, pp. 203-236
-
-
Utley, R.T.1
Cote, J.2
-
32
-
-
0033580838
-
Tip60 is a nuclear hormone receptor coactivator
-
Brady, M.E., Ozanne, D.M., Gaughan, L., Waite, I., Cook, S., Neal, D.E. and Robson, C.N. (1999) Tip60 is a nuclear hormone receptor coactivator. J. Biol. Chem., 274, 17599-17604.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 17599-17604
-
-
Brady, M.E.1
Ozanne, D.M.2
Gaughan, L.3
Waite, I.4
Cook, S.5
Neal, D.E.6
Robson, C.N.7
-
33
-
-
0037135566
-
Tip60 and histone deacetylase 1 regulate androgen receptor activity through changes to the acetylation status of the receptor
-
Gaughan, L., Logan, I.R., Cook, S., Neal, D.E. and Robson, C.N. (2002) Tip60 and histone deacetylase 1 regulate androgen receptor activity through changes to the acetylation status of the receptor. J. Biol. Chem., 277, 25904-25913.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 25904-25913
-
-
Gaughan, L.1
Logan, I.R.2
Cook, S.3
Neal, D.E.4
Robson, C.N.5
-
34
-
-
61449101789
-
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6
-
Globas, C., du Montcel, S.T., Baliko, L., Boesch, S., Depondt, C., DiDonato, S., Durr, A., Filla, A., Klockgetheer, T., Mariotti, C. et al. (2008) Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov. Disord., 23, 2232-2238.
-
(2008)
Mov. Disord.
, vol.23
, pp. 2232-2238
-
-
Globas, C.1
du Montcel, S.T.2
Baliko, L.3
Boesch, S.4
Depondt, C.5
DiDonato, S.6
Durr, A.7
Filla, A.8
Klockgetheer, T.9
Mariotti, C.10
-
35
-
-
16344388976
-
Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort
-
van de Warrenburg, B.P., Hendriks, H., Dürr, A., van Zuijlen, M.C., Stevanin, G., Camuzat, A., Sinke, R.J., Brice, A. and Kremer, B.P. (2005) Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort. Ann. Neurol., 57, 505-512.
-
(2005)
Ann. Neurol.
, vol.57
, pp. 505-512
-
-
van de Warrenburg, B.P.1
Hendriks, H.2
Dürr, A.3
van Zuijlen, M.C.4
Stevanin, G.5
Camuzat, A.6
Sinke, R.J.7
Brice, A.8
Kremer, B.P.9
|