期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1772, 期 2, 页码 128-144出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2006.07.002
关键词
calpain; dystrophy; muscle; dysferlin; titin
资金
- NIAMS NIH HHS [R01 AR048177] Funding Source: Medline
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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