Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

Mutations in the C terminus of titin, situated at the M-band of the striated muscle sarcomere, cause tibial muscular dystrophy (TMD) and limb-girdle muscular dystrophy (LGMD) type 2J. Mutations in the protease calpain 3 (CAPN3), in turn, lead to LGMD2A, and secondary CAPN3 deficiency in LGMD2J sugge...

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Bibliografische gegevens
Hoofdauteurs: Sarparanta, Jaakko, Blandin, Gaëlle, Charton, Karine, Vihola, Anna, Marchand, Sylvie, Milic, Astrid, Hackman, Peter, Ehler, Elisabeth, Richard, Isabelle, Udd, Bjarne
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Biochemistry and Molecular Biology 2010
Onderwerpen:
Molecular Bases of Disease
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2943315/
https://ncbi.nlm.nih.gov/pubmed/20634290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.108720
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