Repairing the tears: dysferlin in muscle membrane repair

被引：63

作者：

Doherty, KR ^{[1
]}

McNally, EM ^{[1
]}

机构：

[1] Univ Chicago, Chicago, IL 60302 USA

来源：

TRENDS IN MOLECULAR MEDICINE | 2003年 / 9卷 / 08期

关键词：

GIRDLE MUSCULAR-DYSTROPHY; SYNAPTOTAGMIN-I; SKELETAL-MUSCLE; GENE; EXPRESSION; MUTATION; MYOPATHY; BINDING; PROTEIN; FUSION;

D O I：

10.1016/S1471-4914(03)00136-9

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：

Many muscular dystrophies arise from enhanced muscle degeneration, but one muscular dystrophy subtype has now been shown to arise from defective muscle membrane repair. Mutations in the gene encoding dysferlin cause muscular dystrophy, and recent work has demonstrated a role for this protein in resealing muscle membrane tears. Thus, two broad categories of muscle membrane defects can now be defined: those with inherent instability and those with compromised repair. The latter might be relevant for muscle wasting that occurs with aging.

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收藏

页码：327 / 330

页数：4

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