Huntington and DRPLA proteins selectively interact with the enzyme GAPDH

被引：375

作者：

Burke, JR

Enghild, JJ

Martin, ME

Jou, YS

Myers, RM

Roses, AD

Vance, JM

Strittmatter, WJ

机构：

[1] DUKE UNIV, MED CTR, DEPT PATHOL, DURHAM, NC 27710 USA

[2] DUKE UNIV, MED CTR, DEPT NEUROBIOL, DURHAM, NC 27710 USA

[3] DUKE UNIV, MED CTR, DEPT GENET, DURHAM, NC 27710 USA

[4] DUKE UNIV, MED CTR, DEANE LAB, DURHAM, NC 27710 USA

[5] STANFORD UNIV, SCH MED, DEPT GENET, STANFORD, CA 94305 USA

来源：

NATURE MEDICINE | 1996年 / 2卷 / 03期

关键词：

D O I：

10.1038/nm0396-347

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

At least five adult-onset neurodegenerative diseases, including Huntington disease (HD), and dentatorubral-pallidoluysian atrophy (DRPLA) are produced by genes containing a variably increased CAG repeat within the coding region(1-4). The size range of the repeats is similar in all diseases; unaffected individuals have fewer than 30 CAG repeats, whereas affected patients usually have more than 40 repeats. The size of the inherited CAG repeat correlates with the severity and age of disease onset(1,5-7). The CAG triplet repeat produces a polyglutamine domain in the expressed proteins(3,8-10). All of these diseases are inherited in a dominant fashion, and a pathologic gain of function in gene carriers has been proposed. We sought to identify proteins in the brain that selectively interact with polyglutamine domain proteins, hypothesizing that the polyglutamine domain may determine protein-protein interactions.

引用

页码：347 / 350

页数：4

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