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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Veröffentlicht in:	The Journal of biological chemistry 2010-09, Vol.285 (39), p.30304-30315
Hauptverfasser:	Sarparanta, Jaakko, Blandin, Gaëlle, Charton, Karine, Vihola, Anna, Marchand, Sylvie, Milic, Astrid, Hackman, Peter, Ehler, Elisabeth, Richard, Isabelle, Udd, Bjarne
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Motifs Biological Transport Calpain Calpain - genetics Calpain - metabolism Connectin Cyclic AMP-Dependent Protein Kinases - genetics Cyclic AMP-Dependent Protein Kinases - metabolism Humans Molecular Bases of Disease Muscle Proteins - genetics Muscle Proteins - metabolism Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - metabolism Muscular Dystrophy Mutation Protein Binding Protein Kinase A (PKA) Protein Kinases - genetics Protein Kinases - metabolism Protein-Protein Interactions Sarcomere Sarcomeres - genetics Sarcomeres - metabolism Signal Transduction Skeletal Muscle Titin Two-Hybrid System Techniques
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