Article: article from journal or magazin.
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)
Biochimica et Biophysica Acta-Molecular Basis of Disease
Journal Article Review --- Old month value: Feb
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.
Animals Calpain/*chemistry/*genetics/physiology Humans Muscle Proteins/*chemistry/*genetics/physiology Muscular Dystrophies, Limb-Girdle/classification/*genetics/metabolism/*pathology Mutation, Missense
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