Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)

被引：62
作者：
Kramerova, Irina
Beckmann, Jacques S.
Spencer, Melissa J.
机构：
[1] Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90095 USA
[2] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90095 USA
[3] Univ Calif Los Angeles, Duchenne Muscular Dystrophy Res Ctr, Los Angeles, CA 90095 USA
[4] Univ Lausanne, Fac Med, Dept Med Genet, CH-1005 Lausanne, Switzerland
来源：
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2007年 / 1772卷 / 02期
关键词：
calpain; dystrophy; muscle; dysferlin; titin; MUSCLE-SPECIFIC CALPAIN; UBIQUITIN-PROTEASOME PATHWAY; CALCIUM-DEPENDENT PROTEASE; CZECH LGMD2A PATIENTS; SKELETAL-MUSCLE; BETA-SARCOGLYCAN; ACTIVE-SITE; CRYSTAL-STRUCTURE; MIYOSHI MYOPATHY; BINDING PROTEIN;
D O I：
10.1016/j.bbadis.2006.07.002
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：
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive fashion and result in progressive proximal skeletal muscle wasting but no cardiac abnormalities. Calpain 3 has been shown to proteolytically cleave a wide variety of cytoskeletal and myofibrillar proteins and to act upstream of the ubiquitin-proteasome pathway. In this review, we summarize the known biochemical and physiological features of calpain 3 and hypothesize why mutations result in disease. (c) 2006 Elsevier B.V. All rights reserved.
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收藏
页码：128 / 144
页数：17
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