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

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

卷:1772

Review

Kramerova, Irina ; Beckmann, Jacques S. ; Spencer, Melissa J.

关键词: calpain;    dystrophy;    muscle;    dysferlin;    titin;   

DOI  :  10.1016/j.bbadis.2006.07.002

来源: Elsevier

【 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.

【 授权许可】

Free