A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca(2+) Release

An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and calsequestrin-1 (CASQ1) accumulation in skeletal muscle, has been recently associated with a missense mutation in CASQ1 gene. The mutation replaces an evolutionarily-conserved aspartic acid with glycin...

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Udgivet i:PLoS One
Main Authors: D’Adamo, Maria Cristina, Sforna, Luigi, Visentin, Sergio, Grottesi, Alessandro, Servettini, llenio, Guglielmi, Luca, Macchioni, Lara, Saredi, Simona, Curcio, Maurizio, De Nuccio, Chiara, Hasan, Sonia, Corazzi, Lanfranco, Franciolini, Fabio, Mora, Marina, Catacuzzeno, Luigi, Pessia, Mauro
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4873205/
https://ncbi.nlm.nih.gov/pubmed/27196359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0155516
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