Cleavage, aggregation and toxicity of the expanded androgen receptor in spinal and bulbar muscular atrophy

被引：155

作者：

Merry, DE ^{[1
]}

Kobayashi, Y

Bailey, CK

Taye, AA

Fischbeck, KH

机构：

[1] Univ Penn, Sch Med, Dept Neurol, Philadelphia, PA 19104 USA

[2] Nagoya Univ, Sch Med, Dept Neurol, Nagoya, Aichi 464, Japan

来源：

HUMAN MOLECULAR GENETICS | 1998年 / 7卷 / 04期

关键词：

D O I：

10.1093/hmg/7.4.693

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：

Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of a polyglutamine repeat within the androgen receptor (AR), We have studied the mutant AR in an in vitro system, and find both aggregation and proteolytic processing of the AR protein to occur in a polyglutamine repeat length-dependent manner, In addition, we find the aberrant metabolism of expanded repeat AR to be coupled to cellular toxicity, indicating a likely molecular basis for the toxic gain of AR function that produces neuronal degeneration in SBMA.

引用

页码：693 / 701

页数：9

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