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

Détails

ID Serval
serval:BIB_6D76F816B0A0
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A)
Périodique
Biochimica et Biophysica Acta-Molecular Basis of Disease
Auteur⸱e⸱s
Kramerova  I., Beckmann  J. S., Spencer  M. J.
ISSN
0925-4439
ISSN-L
1879-260X
Statut éditorial
Publié
Date de publication
02/2007
Peer-reviewed
Oui
Volume
1772
Numéro
2
Pages
128-44
Notes
Journal Article Review --- Old month value: Feb
Résumé
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.
Mots-clé
Animals Calpain/*chemistry/*genetics/physiology Humans Muscle Proteins/*chemistry/*genetics/physiology Muscular Dystrophies, Limb-Girdle/classification/*genetics/metabolism/*pathology Mutation, Missense
Pubmed
Web of science
Open Access
Oui
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 14:27
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