Degenerative ataxias: Genetics, pathogenesis and animal models

被引:18
作者
Kakizuka, A
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D O I
10.1097/00019052-199708000-00002
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
At present, seven inherited neurodegenerative disorders have been identified to be caused by the polyglutamine-coding CAG triplet expansions in the genes responsible. The long stretch of polyglutamines appears to play a key role in the pathogenesis. Disease models, just recently established with cultured cells and animals, will enable elucidation of common disease mechanisms and treatments.
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页码:285 / 290
页数:6
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[11]   Acute application of an interleukin-1 beta-converting enzyme-specific inhibitor delays axotomy-induced motoneurone death [J].
deBilbao, F ;
DuboisDauphin, M .
NEUROREPORT, 1996, 7 (18) :3051-3054
[12]   Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice [J].
Doyle, J ;
Ren, XJ ;
Lennon, G ;
Stubbs, L .
MAMMALIAN GENOME, 1997, 8 (02) :113-120
[13]   Absence epilepsy in tottering mutant mice is associated with calcium channel defects [J].
Fletcher, CF ;
Lutz, CM ;
OSullivan, TN ;
Shaughnessy, JD ;
Hawkes, R ;
Frankel, WN ;
Copeland, NG ;
Jenkins, NA .
CELL, 1996, 87 (04) :607-617
[14]   Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract [J].
Goldberg, YP ;
Nicholson, DW ;
Rasper, DM ;
Kalchman, MA ;
Koide, HB ;
Graham, RK ;
Bromm, M ;
KazemiEsfarjani, P ;
Thornberry, NA ;
Vaillancourt, JP ;
Hayden, MR .
NATURE GENETICS, 1996, 13 (04) :442-449
[15]   Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice [J].
Gourdon, G ;
Radvanyi, F ;
Lia, AS ;
Duros, C ;
Blanche, M ;
Abitbol, M ;
Junien, C ;
HofmannRadvanyi, H .
NATURE GENETICS, 1997, 15 (02) :190-192
[16]  
Holmes FE, 1996, NEUROSCI LETT, V213, P185
[17]  
*HUNT DIS COLL RES, 1993, CELL, V72, P971
[18]   Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo [J].
Ikeda, H ;
Yamaguchi, M ;
Sugai, S ;
Aze, Y ;
Narumiya, S ;
Kakizuka, A .
NATURE GENETICS, 1996, 13 (02) :196-202
[19]   Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [J].
Imbert, G ;
Saudou, F ;
Yvert, G ;
Devys, D ;
Trottier, Y ;
Garnier, JM ;
Weber, C ;
Mandel, JL ;
Cancel, G ;
Abbas, N ;
Durr, A ;
Didierjean, O ;
Stevanin, G ;
Agid, Y ;
Brice, A .
NATURE GENETICS, 1996, 14 (03) :285-291
[20]  
Ishitani R, 1996, J PHARMACOL EXP THER, V278, P447