Polyglutamine expansion neurodegenerative disease

被引：57

作者：

Fischbeck, KH ^{[1
]}

机构：

[1] NINCDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

来源：

BRAIN RESEARCH BULLETIN | 2001年 / 56卷 / 3-4期

关键词：

neurodegeneration; Kennedy's disease; Huntington's disease; spinocerebellar ataxia; CREB-binding protein; drug screens;

D O I：

10.1016/S0361-9230(01)00577-9

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Kennedy's disease was the first of eight neurodegenerative disorders found to be caused by expanded polyglutamine repeats. Each of these disorders is likely caused by a toxic gain of function in the disease gene product, often associated with inclusions of mutant protein in susceptible neurons. The mechanism of toxicity may involve sequestration and depletion of a polyglutamine-containing protein that is important to neuronal survival, such as CREB-binding protein. Recent insights into the biochemistry and cellular pathology of the polyglutamine expansion neurodegenerative diseases provide the opportunity for systematic drug screens and a rational approach to effective therapy. (C) 2001 Elsevier Science Inc.

引用

页码：161 / 163

页数：3

共 17 条

[1] Expression of expanded repeat androgen receptor produces neurologic disease in transgenic mice [J].

Abel, A ;

Walcott, J ;

Woods, J ;

Duda, J ;

Merry, DE .

HUMAN MOLECULAR GENETICS, 2001, 10 (02) :107-116

[2] SCA1 TRANSGENIC MICE - A MODEL FOR NEURODEGENERATION CAUSED BY AN EXPANDED CAG TRINUCLEOTIDE REPEAT [J].

BURRIGHT, EN ;

CLARK, HB ;

SERVADIO, A ;

MATILLA, T ;

FEDDERSEN, RM ;

YUNIS, WS ;

DUVICK, LA ;

ZOGHBI, HY ;

ORR, HT .

CELL, 1995, 82 (06) :937-948

[3] Identification of genes that modify ataxin-1-induced neurodegeneration [J].

Fernandez-Funez, P ;

Nino-Rosales, ML ;

de Gouyon, B ;

She, WC ;

Luchak, JM ;

Martinez, P ;

Turiegano, E ;

Benito, J ;

Capovilla, M ;

Skinner, PJ ;

McCall, A ;

Canal, I ;

Orr, HT ;

Zoghbi, HY ;

Botas, J .

NATURE, 2000, 408 (6808) :101-106

[4] Genetic suppression of polyglutamine toxicity in Drosophila [J].

Kazemi-Esfarjani, P ;

Benzer, S .

SCIENCE, 2000, 287 (5459) :1837-1840

[5] PROGRESSIVE PROXIMAL SPINAL AND BULBAR MUSCULAR ATROPHY OF LATE ONSET - A SEX-LINKED RECESSIVE TRAIT [J].

KENNEDY, WR ;

ALTER, M ;

SUNG, JH .

NEUROLOGY, 1968, 18 (07) :671-&

[6] Ataxin-1 nuclear localization and aggregation:: Role in polyglutamine-induced disease in SCA1 transgenic mice [J].

Klement, IA ;

Skinner, PJ ;

Kaytor, MD ;

Yi, H ;

Hersch, SM ;

Clark, HB ;

Zoghbi, HY ;

Orr, HT .

CELL, 1998, 95 (01) :41-53

[7]

LA SA, 1991, NATURE, V352, P77

[8] MEIOTIC STABILITY AND GENOTYPE-PHENOTYPE CORRELATION OF THE TRINUCLEOTIDE REPEAT IN X-LINKED SPINAL AND BULBAR MUSCULAR-ATROPHY [J].

LASPADA, AR ;

ROLING, DB ;

HARDING, AE ;

WARNER, CL ;

SPIEGEL, R ;

HAUSMANOWAPETRUSEWICZ, I ;

YEE, WC ;

FISCHBECK, KH .

NATURE GENETICS, 1992, 2 (04) :301-304

[9] CREB-binding protein sequestration by expanded polyglutamine [J].

McCampbell, A ;

Taylor, JP ;

Taye, AA ;

Robitschek, J ;

Li, M ;

Walcott, J ;

Merry, D ;

Chai, YH ;

Paulson, H ;

Sobue, G ;

Fischbeck, KH .

HUMAN MOLECULAR GENETICS, 2000, 9 (14) :2197-2202

[10] Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy [J].

Merry, DE ;

Kobayashi, Y ;

Bailey, CK ;

Taye, AA ;

Fischbeck, KH .

HUMAN MOLECULAR GENETICS, 1998, 7 (04) :693-701

← 1 2 →