title: Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
abstract: 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.
authors.affiliation: Department of Neurology and Pediatrics and UCLA Duchenne Muscular Dystrophy Research Center, University of California, Los Angeles, Neuroscience Research Building, 635 Young Dr. South, Los Angeles, CA 90095-7334, USA.
authors.forename: Irina
authors.initials: I
authors.lastname: Kramerova
authors.forename: Jacques S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: Melissa J
authors.initials: MJ
authors.lastname: Spencer
mesh_terms: D000818:Animals; D002154:Calpain / Q000737:chemistry* / Q000235:genetics* / Q000502:physiology; D006801:Humans; D009124:Muscle Proteins / Q000737:chemistry* / Q000235:genetics* / Q000502:physiology; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D020125:Mutation, Missense
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain