-
1
-
-
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 352, 77-79 (1991).
-
(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
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
-
4
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6, 9-13 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
-
5
-
-
0028335386
-
Expansion of an unstable CAG trinucleotide on chromosome 12p in dentatorubral and pallidoluysian atrophy
-
Nagafuchi, S. et al. Expansion of an unstable CAG trinucleotide on chromosome 12p in dentatorubral and pallidoluysian atrophy. Nature Genet. 6, 14-18 (1994).
-
(1994)
Nature Genet.
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
-
6
-
-
0028143527
-
CAG repeat expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi, Y. et al. CAG repeat expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1.Wature Genet. 8, 221-227 (1994).
-
(1994)
Wature Genet.
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
-
7
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei, K. et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277-284 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
-
8
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst, S.M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269-276 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
-
9
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert, G. et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14, 285-291 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 285-291
-
-
Imbert, G.1
-
10
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha la-voltage-dependent calcium channel
-
Zhuchenko, O. et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha la-voltage-dependent calcium channel. Nature Genet. 15, 62-69 (1997).
-
(1997)
Nature Genet.
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
-
11
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David, G. et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet. 17, 65-70 (1997).
-
(1997)
Nature Genet.
, vol.17
, pp. 65-70
-
-
David, G.1
-
12
-
-
0023910355
-
Cloning of human androgen receptor complementary DNA and localization to the X chromosome
-
Lubahn, D.B. et al. Cloning of human androgen receptor complementary DNA and localization to the X chromosome. Science 240, 327-330 (1988).
-
(1988)
Science
, vol.240
, pp. 327-330
-
-
Lubahn, D.B.1
-
13
-
-
0028060244
-
Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
-
Nagafuchi, S. et al. Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA). Nature Genet. 8, 177-182 (1994).
-
(1994)
Nature Genet.
, vol.8
, pp. 177-182
-
-
Nagafuchi, S.1
-
14
-
-
0025775195
-
Primary structure and functional expression from complementary DNA of a brain calcium channel
-
Mori, Y. et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350, 398-402 (1991).
-
(1991)
Nature
, vol.350
, pp. 398-402
-
-
Mori, Y.1
-
15
-
-
0029015557
-
Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain
-
Yazawa, I. et al. Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain. Nature Genet. 10, 99-103 (1995).
-
(1995)
Nature Genet.
, vol.10
, pp. 99-103
-
-
Yazawa, I.1
-
16
-
-
0029055601
-
Cellular localization of the huntington's disease protein and discrimination of the normal and mutated form
-
Trottier, Y. et al. Cellular localization of the huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 10, 104-110 (1995).
-
(1995)
Nature Genet.
, vol.10
, pp. 104-110
-
-
Trottier, Y.1
-
17
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio, A. et al. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet. 10, 94-98 (1995).
-
(1995)
Nature Genet.
, vol.10
, pp. 94-98
-
-
Servadio, A.1
-
18
-
-
0028858001
-
Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS
-
Onodera, O. et al. Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS. Am. J. Hum. Genet. 57, 1050-1060 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1050-1060
-
-
Onodera, O.1
-
19
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E.N. et al. SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82, 937-948 (1995).
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
-
20
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda, H. et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196-202 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
-
21
-
-
16044373842
-
Exon 1 of the HD gene with an expanded cag repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini, L. et al. Exon 1 of the HD gene with an expanded cag repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87,493-506 (1996).
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
-
22
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies, S.W. et al. Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548 (1997).
-
(1997)
Cell
, vol.90
, pp. 537-548
-
-
Davies, S.W.1
-
23
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz, M.F., Johnson, T., Suzuki, M. & Finch, J.T. Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. USA 91, 5355-5358 (1994).
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
24
-
-
0029059477
-
Incorporation of glutamine repeats makes protein oligomerize: Implications for neurodegenerative diseases
-
Stott, K., Blackburn, J.M., Butler, P.J. & Perutz, M.F. Incorporation of glutamine repeats makes protein oligomerize: implications for neurodegenerative diseases. Proc. Natl. Acad. Sci. USA 92, 6509-6513 (1995).
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 6509-6513
-
-
Stott, K.1
Blackburn, J.M.2
Butler, P.J.3
Perutz, M.F.4
-
25
-
-
0029856046
-
Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system
-
Kahlem, P., Terre, C, Green, H. & Djian, P. Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: relevance to diseases of the nervous system. Proc. Natl. Acad. Sci. USA 93, 14580-14585 (1996).
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 14580-14585
-
-
Kahlem, P.1
Terre, C.2
Green, H.3
Djian, P.4
-
26
-
-
0020064620
-
Familial myoclonus epilepsy and choreoathetosis: Hereditary dentatorubral-pallidoluysian atrophy
-
Naito, H. & Oyanagi, S. Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. Neurol. 32, 798-807 (1982).
-
(1982)
Neurol.
, vol.32
, pp. 798-807
-
-
Naito, H.1
Oyanagi, S.2
-
27
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi, T. et al. Dentatorubral-pallidoluysian atrophy (DRPLA): Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann. Neurol. 37, 769-775 (1995).
-
(1995)
Ann. Neurol.
, vol.37
, pp. 769-775
-
-
Ikeuchi, T.1
-
28
-
-
0018350865
-
Specificity of guinea pig liver transglutaminase for amine substrates
-
Lorand, L. et al. Specificity of guinea pig liver transglutaminase for amine substrates. Biochemistry 18, 1756-1765 (1979).
-
(1979)
Biochemistry
, vol.18
, pp. 1756-1765
-
-
Lorand, L.1
-
30
-
-
0028973138
-
Transglutaminase-catalyzed cross linking of fibrils of collagen V/XI in A 204 rhabdomyosarcoma cell
-
Kleman, J.-P., Aeschlimann, D., Paulsson, M. & van der Rest, M. Transglutaminase-catalyzed cross linking of fibrils of collagen V/XI in A 204 rhabdomyosarcoma cell. Biochemistry 34, 13768-13775 (1995).
-
(1995)
Biochemistry
, vol.34
, pp. 13768-13775
-
-
Kleman, J.-P.1
Aeschlimann, D.2
Paulsson, M.3
Van Der Rest, M.4
-
31
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson, H.L et. al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19, 333-334 (1997).
-
(1997)
Neuron
, vol.19
, pp. 333-334
-
-
Paulson, H.L.1
-
32
-
-
18544400323
-
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
-
Scherzinger, E., et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90, 549-558 (1997).
-
(1997)
Cell
, vol.90
, pp. 549-558
-
-
Scherzinger, E.1
-
33
-
-
0031577584
-
Oligomerization of expanded-polyglutamine domain fluorescent fusion proteins in cultured mammalian cells
-
Onodera, O. et al. Oligomerization of expanded-polyglutamine domain fluorescent fusion proteins in cultured mammalian cells. Biochem. Biophy. Res. Commun. 238, 599-605 (1997).
-
(1997)
Biochem. Biophy. Res. Commun.
, vol.238
, pp. 599-605
-
-
Onodera, O.1
-
34
-
-
0028917211
-
The cortical neuritic pathology of Huntington's disease
-
Jackson, M., et al. The cortical neuritic pathology of Huntington's disease. Neuropatho. Appl. Neurobiol. 21, 18-26 (1995).
-
(1995)
Neuropatho. Appl. Neurobiol.
, vol.21
, pp. 18-26
-
-
Jackson, M.1
-
35
-
-
0030752709
-
Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia, M. et al. Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993 (1997).
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
DiFiglia, M.1
-
36
-
-
0030936575
-
Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain
-
Paulson, H.L. et al. Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Ann. Neurol. 41, 453-462 (1997).
-
(1997)
Ann. Neurol.
, vol.41
, pp. 453-462
-
-
Paulson, H.L.1
-
37
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg, Y.P. et al. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet. 13, 442-449 (1996).
-
(1996)
Nature Genet.
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
-
38
-
-
0024991898
-
PEF-BOS, a powerful mammalian expression vector
-
Mizushima, S. & Nagata, S. pEF-BOS, a powerful mammalian expression vector. Nucleic Acids Res. 18, 5322 (1990).
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 5322
-
-
Mizushima, S.1
Nagata, S.2
|