-
1
-
-
0034094873
-
Glutamine repeats and neurodegeneration
-
H.Y. Zoghbi, and H.T. Orr Glutamine repeats and neurodegeneration Annu. Rev. Neurosci. 23 2000 217 247
-
(2000)
Annu. Rev. Neurosci.
, vol.23
, pp. 217-247
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
2
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
S.M. Pulst, A. Nechiporuk, T. Nechiporuk, S. Gispert, X.N. Chen, I. Lopes-Cendes, S. Pearlman, S. Starkman, G. Orozco-Diaz, A. Lunkes, P. DeJong, G.A. Rouleau, G. Auburger, J.R. Korenberg, C. Figueroa, and S. Sahba Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 Nat. Genet. 14 1996 269 276
-
(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
Pearlman, S.7
Starkman, S.8
Orozco-Diaz, G.9
Lunkes, A.10
Dejong, P.11
Rouleau, G.A.12
Auburger, G.13
Korenberg, J.R.14
Figueroa, C.15
Sahba, S.16
-
3
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
G. Imbert, F. Saudou, G. Yvert, D. Devys, Y. Trottier, J.M. Garnier, C. Weber, J.L. Mandel, G. Cancel, N. Abbas, A. Durr, O. Didierjean, G. Stevanin, Y. Agid, and A. Brice Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats Nat. Genet. 14 1996 285 291
-
(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
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
Durr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
4
-
-
0030292368
-
Identification of the Spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
K. Sanpei, H. Takano, S. Igarashi, T. Sato, M. Oyake, H. Sasaki, A. Wakisaka, K. Tashiro, Y. Ishida, T. Ikeuchi, R. Koide, M. Saito, A. Sato, T. Tanaka, S. Hanyu, Y. Takiyama, M. Nishizawa, N. Shimizu, Y. Nomura, M. Segawa, K. Iwabuchi, I. Eguchi, H. Tanaka, H. Takahashi, and S. Tsuji Identification of the Spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT Nat. Genet. 14 1996 277 284
-
(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
Wakisaka, A.7
Tashiro, K.8
Ishida, Y.9
Ikeuchi, T.10
Koide, R.11
Saito, M.12
Sato, A.13
Tanaka, T.14
Hanyu, S.15
Takiyama, Y.16
Nishizawa, M.17
Shimizu, N.18
Nomura, Y.19
Segawa, M.20
Iwabuchi, K.21
Eguchi, I.22
Tanaka, H.23
Takahashi, H.24
Tsuji, S.25
more..
-
5
-
-
0033582337
-
Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands
-
J. Aguiar, S. Santurlidis, J. Novok, C. Alexander, D. Rudnicki, S. Gispert, W. Schulz, and G. Aburger Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands Biochem. Biophys. Res. Commun. 254 1999 315 318
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.254
, pp. 315-318
-
-
Aguiar, J.1
Santurlidis, S.2
Novok, J.3
Alexander, C.4
Rudnicki, D.5
Gispert, S.6
Schulz, W.7
Aburger, G.8
-
6
-
-
0033391705
-
Molecular diagnosis of a sample of the Cuban population with spinocerebellar ataxia type 2
-
N. Santos, J. Aguiar, J. Fernández, M. Vázquez, G. Auburger, S. Gispert, Y. Mendoza, J. García, and L. Velázquez Molecular diagnosis of a sample of the Cuban population with spinocerebellar ataxia type 2 Biotecnología Aplicada 16 1999 219 221
-
(1999)
Biotecnología Aplicada
, vol.16
, pp. 219-221
-
-
Santos, N.1
Aguiar, J.2
Fernández, J.3
Vázquez, M.4
Auburger, G.5
Gispert, S.6
Mendoza, Y.7
García, J.8
Velázquez, L.9
-
7
-
-
0033044001
-
Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2
-
D.P. Huynh, M.R. Del Bigio, D.H. Ho, and S.M. Pulst Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2 Ann. Neurol. 45 1999 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
-
8
-
-
0033811788
-
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
-
D.P. Huynh, K. Figueroa, N. Hoang, and S.M. Pulst Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human Nat. Genet. 26 2000 44 50
-
(2000)
Nat. Genet.
, vol.26
, pp. 44-50
-
-
Huynh, D.P.1
Figueroa, K.2
Hoang, N.3
Pulst, S.M.4
-
9
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
L. Mangiarini, K. Sathasivam, M. Seller, B. Cozens, A. Harper, C. Hetherington, M. Lawton, Y. Trottier, H. Lehrach, S.W. Davies, and G.P. Bates Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice Cell 87 1996 493 506
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
Sathasivam, K.2
Seller, M.3
Cozens, B.4
Harper, A.5
Hetherington, C.6
Lawton, M.7
Trottier, Y.8
Lehrach, H.9
Davies, S.W.10
Bates, G.P.11
-
10
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
H. Ikeda, M. Yamaguchi, S. Sugai, Y. Aze, S. Narumiya, and A. Kakizuka Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo Nat. Genet. 13 1996 196 202
-
(1996)
Nat. Genet.
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
11
-
-
0035862754
-
Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice
-
A. Abel, J. Walcott, J. Woods, J. Duda, and D.E. Merry Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice Hum. Mol. Genet. 10 2001 107 116
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 107-116
-
-
Abel, A.1
Walcott, J.2
Woods, J.3
Duda, J.4
Merry, D.E.5
-
12
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
E.N. Burright, H.B. Clark, A. Servadio, T. Matilla, R.M. Feddersen, W.S. Yunis, L.A. Duvick, H.Y. Zoghbi, and H.T. Orr SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat Cell 82 1995 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
-
13
-
-
0031876677
-
The mouse SCA 2 gene: CDNA sequence, alternative splicing and protein expression
-
T. Nechiporuk, D. Huynh, K. Figueroa, A. Sahba, A. Nechiporuk, and S.M. Pulst The mouse SCA 2 gene: cDNA sequence, alternative splicing and protein expression Hum. Mol. Genet. 7 1998 1301 1309
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1301-1309
-
-
Nechiporuk, T.1
Huynh, D.2
Figueroa, K.3
Sahba, A.4
Nechiporuk, A.5
Pulst, S.M.6
-
14
-
-
0033136692
-
A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration
-
J.G. Hodgson, N. Agopyan, C.A. Gutekunst, B.R. Leavitt, F. LePiane, R. Singaraja, D.J. Smith, N. Bissada, K. McCutcheon, J. Nasir, L. Jamot, X.J. Li, M.E. Stevens, E. Rosemond, J.C. Roder, A.G. Phillips, E.M. Rubin, S.M. Hersch, and M.R. Hayden A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration Neuron 23 1999 181 192
-
(1999)
Neuron
, vol.23
, pp. 181-192
-
-
Hodgson, J.G.1
Agopyan, N.2
Gutekunst, C.A.3
Leavitt, B.R.4
Lepiane, F.5
Singaraja, R.6
Smith, D.J.7
Bissada, N.8
McCutcheon, K.9
Nasir, J.10
Jamot, L.11
Li, X.J.12
Stevens, M.E.13
Rosemond, E.14
Roder, J.C.15
Phillips, A.G.16
Rubin, E.M.17
Hersch, S.M.18
Hayden, M.R.19
-
15
-
-
0032907359
-
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients
-
T. Sato, M. Oyake, K. Nakamura, K. Nakao, Y. Fukusima, O. Onodera, S. Igarashi, H. Takano, K. Kikugawa, Y. Ishida, T. Shimohata, R. Koide, T. Ikeuchi, H. Tanaka, N. Futamura, R. Matsumura, T. Takayanagi, F. Tanaka, G. Sobue, O. Komure, M. Takahashi, A. Sano, Y. Ichikawa, J. Goto, I. Kanazawa, M. Katsuki, and S. Tsuji Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients Hum. Mol. Genet. 8 1999 99 106
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 99-106
-
-
Sato, T.1
Oyake, M.2
Nakamura, K.3
Nakao, K.4
Fukusima, Y.5
Onodera, O.6
Igarashi, S.7
Takano, H.8
Kikugawa, K.9
Ishida, Y.10
Shimohata, T.11
Koide, R.12
Ikeuchi, T.13
Tanaka, H.14
Futamura, N.15
Matsumura, R.16
Takayanagi, T.17
Tanaka, F.18
Sobue, G.19
Komure, O.20
Takahashi, M.21
Sano, A.22
Ichikawa, Y.23
Goto, J.24
Kanazawa, I.25
Katsuki, M.26
Tsuji, S.27
more..
-
16
-
-
12244311838
-
Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
-
R.T. Libby, D.G. Monckton, Y.H. Fu, R.A. Martinez, J.P. McAbney, R. Lau, D.D. Einum, K. Nichol, C.B. Ware, L.J. Ptacek, C.E. Pearson, and A.R. La Spada Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice Hum. Mol. Genet. 12 2003 41 50
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 41-50
-
-
Libby, R.T.1
Monckton, D.G.2
Fu, Y.H.3
Martinez, R.A.4
McAbney, J.P.5
Lau, R.6
Einum, D.D.7
Nichol, K.8
Ware, C.B.9
Ptacek, L.J.10
Pearson, C.E.11
La Spada, A.R.12
-
17
-
-
0037726598
-
Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1
-
H.K. Chen, P. Fernandez-Funez, S.F. Acevedo, Y.C. Lam, M.D. Kaytor, M.H. Fernandez, A. Aitken, E.M. Skoulakis, H.T. Orr, J. Botas, and H.Y. Zoghbi Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1 Cell 113 2003 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.8
Orr, H.T.9
Botas, J.10
Zoghbi, H.Y.11
-
18
-
-
0037846441
-
Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
-
E.S. Emamian, M.D. Kaytor, L.A. Duvick, T. Zu, S.K. Tousey, H.Y. Zoghbi, H.B. Clark, and H.T. Orr Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice Neuron 38 2003 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
-
19
-
-
0141891215
-
Pathogenesis of polyglutamine disorders: Aggregation revisited
-
A. Michalik, and C. Van Broeckhoven Pathogenesis of polyglutamine disorders: aggregation revisited Hum. Mol. Genet. 12 2003 173 186
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 173-186
-
-
Michalik, A.1
Van Broeckhoven, C.2
-
20
-
-
3042717240
-
Cellular toxicity of polyglutamine expansion proteins: Mechanism of transcription factor deactivation
-
G. Schaffar, P. Breuer, R. Boteva, C. Behrends, N. Tzvetkov, N. Strippel, H. Sakahira, K. Siegers, M. Hayer-Hartl, and F.U. Hartl Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation Mol. Cell. 15 2004 95 105
-
(2004)
Mol. Cell.
, vol.15
, pp. 95-105
-
-
Schaffar, G.1
Breuer, P.2
Boteva, R.3
Behrends, C.4
Tzvetkov, N.5
Strippel, N.6
Sakahira, H.7
Siegers, K.8
Hayer-Hartl, M.9
Hartl, F.U.10
|