-
1
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH: 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
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Research Group: 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
-
-
-
3
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993, 4:221-226.
-
(1993)
Nature Genet
, vol.4
, 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
-
4
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T et al.: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 1994, 6:9-13.
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
-
5
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro, K, Kondo I, Murayama N et al.: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 1994, 6:14-18.
-
(1994)
Nature Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
-
6
-
-
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, Kawakami H, Nakamura S, Nishimura M, Akiguchi I et al.: CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994, 8:221-228.
-
(1994)
Nature Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
-
7
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A et al.: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427. The first identification of the intronic triplet expansions in a most common recessive inherited ataxia, Friedreich's ataxia, is presented.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
8
-
-
0029840038
-
The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase
-
Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S: The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet 1996, 14:157-162.
-
(1996)
Nature Genet
, vol.14
, pp. 157-162
-
-
Carvajal, J.J.1
Pook, M.A.2
Dos Santos, M.3
Doudney, K.4
Hillermann, R.5
Minogue, S.6
Williamson, R.7
Hsuan, J.J.8
Chamberlain, S.9
-
9
-
-
0031110672
-
Frataxin fracas
-
Cossée M, Campuzano V, Koutnikova H, Fischbeck K, Mandel J-L, Koenig M, Bidichandani SI, Patel PI, Moltè MD, Cañizares J et al.: Frataxin fracas [Letter]. Nature Genet 1997, 15:337.
-
(1997)
Nature Genet
, vol.15
, pp. 337
-
-
Cossée, M.1
Campuzano, V.2
Koutnikova, H.3
Fischbeck, K.4
Mandel, J.-L.5
Koenig, M.6
Bidichandani, S.I.7
Patel, P.I.8
Moltè, M.D.9
Cañizares, J.10
-
10
-
-
84984763803
-
Frataxin fracas
-
Chamberlain S, Pook M, Carvajal J, Doudney K, Hillermann R: Frataxin fracas, [Reply]. Nature Genet 1997, 15:338.
-
(1997)
Nature Genet
, vol.15
, pp. 338
-
-
Chamberlain, S.1
Pook, M.2
Carvajal, J.3
Doudney, K.4
Hillermann, R.5
-
11
-
-
0029877383
-
A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus
-
Smeyers P, Monrós E, Vilchez J, Lopez-Arlandis J, Prieto F, Palau F: A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus. Hum Genet 1996, 97:824-828.
-
(1996)
Hum Genet
, vol.97
, pp. 824-828
-
-
Smeyers, P.1
Monrós, E.2
Vilchez, J.3
Lopez-Arlandis, J.4
Prieto, F.5
Palau, F.6
-
12
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S-M, Nechiporuk A, Nechiporuk T, Gispert S, Chen X-N, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A et al.: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996, 14:269-276.
-
(1996)
Nature 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
-
13
-
-
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 J-M, Weber C, Mandel J-L, Cancel G, Abbas N, et al.: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 1996, 14:285-291.
-
(1996)
Nature 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
-
14
-
-
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, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T et al.: Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 1996, 14:277-284. The authors developed a novel strategy to directly clone a gene fragment with an expanded triplet. This strategy may facilitate the cloning of novel triplet expansions in other inherited neurodegenerations as well as in psychiatric diseases.
-
(1996)
Nature 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
-
15
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nature Genet 1997, 15:62-69. The first demonstration that a membrane protein, an α subunit of the calcium channel, with the subtle CAG expansions causes a dominant inherited spinocerebellar ataxia, SCA6.
-
(1997)
Nature 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
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
16
-
-
16044370232
-
2+ channel gene CACNL1A4
-
2+ channel gene CACNL1A4. Cell 1996, 87:543-552. This study retrospectively demonstrated that point mutations in the human SCA6 gene produces dominantly inherited neurological disorders with milder phenotypes than SCA6.
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
Van Eijk, R.4
Oefner, P.J.5
Hoffman, S.M.G.6
Lamerdin, J.E.7
Mohrenweiser, H.W.8
Bulman, D.E.9
Ferrari, M.10
-
17
-
-
0030584085
-
Absence epilepsy in tottering mutant mice is associated with calcium channel defects
-
Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JD Jr, Hawkes R, Frankel WN, Copeland NG, Jenkins NA: Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996, 87:607-617. This study retrospectively demonstrated that the loss of functional mutations in the mouse SCA6 gene produces recessive inherited neurological disorders.
-
(1996)
Cell
, vol.87
, pp. 607-617
-
-
Fletcher, C.F.1
Lutz, C.M.2
O'Sullivan, T.N.3
Shaughnessy Jr., J.D.4
Hawkes, R.5
Frankel, W.N.6
Copeland, N.G.7
Jenkins, N.A.8
-
18
-
-
0031064169
-
Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice
-
Doyle J, Ren XJ, Lennon G, Stubbs L: Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mammalian Genome 1997, 8:113-120.
-
(1997)
Mammalian Genome
, vol.8
, pp. 113-120
-
-
Doyle, J.1
Ren, X.J.2
Lennon, G.3
Stubbs, L.4
-
19
-
-
0030614535
-
2+ channel β subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
-
2+ channel β subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 1997, 88:385-392.
-
(1997)
Cell
, vol.88
, pp. 385-392
-
-
Burgess, D.L.1
Jones, J.M.2
Meisler, M.H.3
Noebels, J.L.4
-
20
-
-
0029789472
-
A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting
-
Kohrman DC, Smith MR, Goldin AL, Harris J, Meisler MH: A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J Neurosci 1996, 16:5993-5999.
-
(1996)
J Neurosci
, vol.16
, pp. 5993-5999
-
-
Kohrman, D.C.1
Smith, M.R.2
Goldin, A.L.3
Harris, J.4
Meisler, M.H.5
-
21
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
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. Nature Genet 1996, 13:196-202. This is the first demonstration that a long stretch of polyglutamines induces apoptosis in cultured cells and in mouse Purkinje cells in vivo, providing a useful system to analyse biochemical and molecular bases of the polyglutamine disease as well as to screen drugs for the treatments.
-
(1996)
Nature Genet
, vol.13
, pp. 196-202
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
22
-
-
0030577359
-
Toxicity of expanded polyglutamine-domain proteins in Escherichia coli
-
Onodera O, Roses AD, Tsuji S, Vance JM, Strittmatter WJ, Burke JR: Toxicity of expanded polyglutamine-domain proteins in Escherichia coli. FEBS Lett 1996, 399:135-139.
-
(1996)
FEBS Lett
, vol.399
, pp. 135-139
-
-
Onodera, O.1
Roses, A.D.2
Tsuji, S.3
Vance, J.M.4
Strittmatter, W.J.5
Burke, J.R.6
-
23
-
-
0030470459
-
Glutamine repeats and inherited neurodegenerative diseases: Molecular aspects
-
Perutz MF: Glutamine repeats and inherited neurodegenerative diseases: molecular aspects. Curr Opin Struct Biol 1996, 6:848-858.
-
(1996)
Curr Opin Struct Biol
, vol.6
, pp. 848-858
-
-
Perutz, M.F.1
-
24
-
-
0030294445
-
The expanding world of ataxins
-
Zoghbi HY: The expanding world of ataxins. Nature Genet 1996, 14:237-238.
-
(1996)
Nature Genet
, vol.14
, pp. 237-238
-
-
Zoghbi, H.Y.1
-
25
-
-
0029856043
-
Neurodegenerative diseases and transglutaminase
-
Lorand L: Neurodegenerative diseases and transglutaminase. Proc Natl Acad Sci U S A 1996, 93:14310-14313.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 14310-14313
-
-
Lorand, L.1
-
26
-
-
0030576597
-
Superactivation of transglutaminase type 2 without change in enzyme level occurs during progressive neurodegeneration in the mnd mouse mutant
-
Holmes FE, Haynes LW: Superactivation of transglutaminase type 2 without change in enzyme level occurs during progressive neurodegeneration in the mnd mouse mutant. Neurosci Lett 1996, 213:185-188.
-
(1996)
Neurosci Lett
, vol.213
, pp. 185-188
-
-
Holmes, F.E.1
Haynes, L.W.2
-
27
-
-
10544228522
-
Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease
-
Cariello L, de Cristofaro T, Zanetti L, Cuomo T, Di Maio L, Campanella G, Rinaldi S, Zanetti P, Di Lauro R, Varrone S: Transglutaminase activity is related to CAG repeat length in patients with Huntington's disease. Hum Genet 1996, 98:633-635.
-
(1996)
Hum Genet
, vol.98
, pp. 633-635
-
-
Cariello, L.1
De Cristofaro, T.2
Zanetti, L.3
Cuomo, T.4
Di Maio, L.5
Campanella, G.6
Rinaldi, S.7
Zanetti, P.8
Di Lauro, R.9
Varrone, S.10
-
28
-
-
0029856046
-
Peptides containing glutamine repeats as substrates for transglutaminase-catalyzed cross-linking: Relevance to diseases of the nervous system
-
Kahlem P, Terré 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 U S A 1996, 93:14580-14585.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 14580-14585
-
-
Kahlem, P.1
Terré, C.2
Green, H.3
Djian, P.4
-
29
-
-
0028803757
-
A huntingtin-associated protein enriched in brain with implications for pathology
-
Li X-J, Li S-H, Sharp AH, Nucifora FC Jr, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA: A huntingtin-associated protein enriched in brain with implications for pathology. Nature 1995, 378:398-402.
-
(1995)
Nature
, vol.378
, pp. 398-402
-
-
Li, X.-J.1
Li, S.-H.2
Sharp, A.H.3
Nucifora Jr., F.C.4
Schilling, G.5
Lanahan, A.6
Worley, P.7
Snyder, S.H.8
Ross, C.A.9
-
30
-
-
0031056478
-
HIP-1: A Huntingtin interacting protein isolated by the yeast two-hybrid system
-
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Walter S, Tait D, Colicelli J, Lehrach H: HIP-1: a Huntingtin interacting protein isolated by the yeast two-hybrid system. Hum Molec Genet 1996, 6:487-495.
-
(1996)
Hum Molec Genet
, vol.6
, pp. 487-495
-
-
Wanker, E.E.1
Rovira, C.2
Scherzinger, E.3
Hasenbank, R.4
Walter, S.5
Tait, D.6
Colicelli, J.7
Lehrach, H.8
-
31
-
-
0030986659
-
HIP1, a human homolog of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain
-
Kalchman MA, Koide HB, McCutcheon K, Graham RK, Nichol K, Nishiyama K, Kazemi-Esfarjani P, Lynn FC, Wellington C, Metzler M et al.: HIP1, a human homolog of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nature Genet 1997, 16:44-53.
-
(1997)
Nature Genet
, vol.16
, pp. 44-53
-
-
Kalchman, M.A.1
Koide, H.B.2
McCutcheon, K.3
Graham, R.K.4
Nichol, K.5
Nishiyama, K.6
Kazemi-Esfarjani, P.7
Lynn, F.C.8
Wellington, C.9
Metzler, M.10
-
32
-
-
0029664992
-
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke JR, Enghild JJ, Martin ME, Jou Y-S, Myers RM, Roses AD, Vance JM, Strittmatter WJ: Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med 1996, 2:347-350.
-
(1996)
Nature Med
, vol.2
, pp. 347-350
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
Jou, Y.-S.4
Myers, R.M.5
Roses, A.D.6
Vance, J.M.7
Strittmatter, W.J.8
-
33
-
-
9444239187
-
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
-
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR: Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem 1996, 271:19385-19394.
-
(1996)
J Biol Chem
, vol.271
, pp. 19385-19394
-
-
Kalchman, M.A.1
Graham, R.K.2
Xia, G.3
Koide, H.B.4
Hodgson, J.G.5
Graham, K.C.6
Goldberg, Y.P.7
Gietz, R.D.8
Pickart, C.M.9
Hayden, M.R.10
-
34
-
-
0030001072
-
Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin
-
Bao J, Sharp AH, Wagster MV, Becher M, Schilling G, Ross CA, Dawson VL, Dawson TM: Expansion of polyglutamine repeat in huntingtin leads to abnormal protein interactions involving calmodulin. Proc Natl Acad Sci U S A 1996, 93:5037-5042.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 5037-5042
-
-
Bao, J.1
Sharp, A.H.2
Wagster, M.V.3
Becher, M.4
Schilling, G.5
Ross, C.A.6
Dawson, V.L.7
Dawson, T.M.8
-
35
-
-
0029833062
-
Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3 phosphate dehydrogenase
-
Kossy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY: Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3 phosphate dehydrogenase. Hum Molec Genet 1996, 5:1311-1318.
-
(1996)
Hum Molec Genet
, vol.5
, pp. 1311-1318
-
-
Kossy, B.1
Matilla, T.2
Burright, E.N.3
Merry, D.E.4
Fischbeck, K.H.5
Orr, H.T.6
Zoghbi, H.Y.7
-
36
-
-
0030045251
-
Evidence that Glyceraldehyde-3-phosphate dehydrogenase is involved in age-induced apoptosis in mature cerebellar neurons in culture
-
Ishitani R, Sunaga K, Hirano A, Saunders P, Katsube N, Chuang D-M: Evidence that Glyceraldehyde-3-phosphate dehydrogenase is involved in age-induced apoptosis in mature cerebellar neurons in culture. J Neurochem 1996, 66:928-935.
-
(1996)
J Neurochem
, vol.66
, pp. 928-935
-
-
Ishitani, R.1
Sunaga, K.2
Hirano, A.3
Saunders, P.4
Katsube, N.5
Chuang, D.-M.6
-
37
-
-
0030426279
-
An antisense oligodeoxynucleotide to glyceraldehyde-3-phosphate dehydrogenase blocks age-induced apoptosis of mature cerebrocortical neurons in culture
-
Ishitani R, Kimura M, Sunaga K, Katsube N, Tanaka M, Chuang D-M: An antisense oligodeoxynucleotide to glyceraldehyde-3-phosphate dehydrogenase blocks age-induced apoptosis of mature cerebrocortical neurons in culture. J Pharmacol Exp Ther 1996, 278:447-454.
-
(1996)
J Pharmacol Exp Ther
, vol.278
, pp. 447-454
-
-
Ishitani, R.1
Kimura, M.2
Sunaga, K.3
Katsube, N.4
Tanaka, M.5
Chuang, D.-M.6
-
38
-
-
0029999665
-
A role for GAPDH in apoptosis and neurodegeneration
-
Chuang D-M, Ishitani R: A role for GAPDH in apoptosis and neurodegeneration. Nature Med 1996, 2:609-610.
-
(1996)
Nature Med
, vol.2
, pp. 609-610
-
-
Chuang, D.-M.1
Ishitani, R.2
-
39
-
-
85036481326
-
A role for GAPDH in apoptosis and neurodegeneration
-
Roses AD, Burke JR, Vance JM, Strittmatter WJ: A role for GAPDH in apoptosis and neurodegeneration [Reply]. Nature Med 1996, 2:610.
-
(1996)
Nature Med
, vol.2
, pp. 610
-
-
Roses, A.D.1
Burke, J.R.2
Vance, J.M.3
Strittmatter, W.J.4
-
40
-
-
0029888017
-
β25-35 alters calcium homeostasis and induces neurotoxicity in cerebellar granule cells
-
Scorziello A, Meucci O, Florio T, Fattore M, Forloni G, Salmona M, Schettini G: β25-35 alters calcium homeostasis and induces neurotoxicity in cerebellar granule cells. J Neurochem 1996, 66:1995-2003.
-
(1996)
J Neurochem
, vol.66
, pp. 1995-2003
-
-
Scorziello, A.1
Meucci, O.2
Florio, T.3
Fattore, M.4
Forloni, G.5
Salmona, M.6
Schettini, G.7
-
41
-
-
0030035931
-
Huntingtin: New marker along the road to death?
-
Rosen A: Huntingtin: new marker along the road to death? Nature Genet 1996, 13:380-382.
-
(1996)
Nature Genet
, vol.13
, pp. 380-382
-
-
Rosen, A.1
-
42
-
-
0029860969
-
Over-expression of interleukin-1β-converting enzyme mRNA in staggerer cerebellum
-
Lemaigre-Dubreuil Y, Brugg B, Chianale C, Delhaye-Bouchaud N, Mariani J: Over-expression of interleukin-1β-converting enzyme mRNA in staggerer cerebellum. NeuroReport 1996, 7:1777-1780.
-
(1996)
NeuroReport
, vol.7
, pp. 1777-1780
-
-
Lemaigre-Dubreuil, Y.1
Brugg, B.2
Chianale, C.3
Delhaye-Bouchaud, N.4
Mariani, J.5
-
43
-
-
0030481801
-
Acute application of an interleukin-1β-converting enzyme-specific inhibitor delays axotomy-induced motoneurone death
-
de Bilbao F, Dubois-Dauphin M: Acute application of an interleukin-1β-converting enzyme-specific inhibitor delays axotomy-induced motoneurone death. NeuroReport 1996, 7:3051-3054.
-
(1996)
NeuroReport
, vol.7
, pp. 3051-3054
-
-
De Bilbao, F.1
Dubois-Dauphin, M.2
-
44
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, Bromm M, Kazemi-Esfarjani P, Thornberry NA, Vaillancourt JP, Hayden MR: Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet 1996, 13:442-449.
-
(1996)
Nature Genet
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
Nicholson, D.W.2
Rasper, D.M.3
Kalchman, M.A.4
Koide, H.B.5
Graham, R.K.6
Bromm, M.7
Kazemi-Esfarjani, P.8
Thornberry, N.A.9
Vaillancourt, J.P.10
Hayden, M.R.11
-
45
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT: SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995, 82:937-948. This study reports the creation of the first animal models with ataxic phenotypes.
-
(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
-
46
-
-
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, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP: Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996, 87:493-506. The study demonstrates that the expression of the exon 1 of the HD gene with approximately 130 CAG repeats could produce broad neurological phenotypes in mice, again emphasizing the importance of the long polyglutamine stretches in neurodegeneration.
-
(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
-
48
-
-
0031056685
-
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
-
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. Nature Genet 1997, 15:197-200. This is the first demonstration of the CAG instabilities in transgenic mice during the transmission and somatic cell divisions. The instabilities, especially in somatic cells, are concomitantly observed with ataxic phenotypes.
-
(1997)
Nature Genet
, vol.15
, pp. 197-200
-
-
Mangiarini, L.1
Sathasivam, K.2
Mahal, A.3
Mott, R.4
Seller, M.5
Bates, G.P.6
-
49
-
-
0031038809
-
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice
-
Gourdon G, Radvanyi F, Lia A-S, Duros C, Blanche M, Abitbol M, Junien C, Hofmann-Radvanyi H: Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature Genet 1997, 15:190-192.
-
(1997)
Nature Genet
, vol.15
, pp. 190-192
-
-
Gourdon, G.1
Radvanyi, F.2
Lia, A.-S.3
Duros, C.4
Blanche, M.5
Abitbol, M.6
Junien, C.7
Hofmann-Radvanyi, H.8
-
50
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton DG, Coolbaugh MI, Ashizawa KT, Siciliano MJ, Caskey CT: Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genet 1997, 15:193-196.
-
(1997)
Nature Genet
, vol.15
, pp. 193-196
-
-
Monckton, D.G.1
Coolbaugh, M.I.2
Ashizawa, K.T.3
Siciliano, M.J.4
Caskey, C.T.5
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