A Mutation in Calsequestrin, CASQ2(D307H), Impairs Sarcoplasmic Reticulum Ca(2+) Handling and Causes Complex Ventricular Arrhythmias in Mice

OBJECTIVE: A naturally-occurring mutation in cardiac calsequestrin (CASQ2) at amino acid 307 was discovered in a highly inbred family and hypothesized to cause Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). The goal of this study was to establish a causal link between CASQ2(D307H) and...

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Hlavní autoři: Dirksen, Wessel P., Lacombe, Veronique A., Chi, Mei, Kalyanasundaram, Anuradha, Viatchenko-Karpinski, Serge, Terentyev, Dmitry, Zhou, Zhixiang, Vedamoorthyrao, Srikanth, Li, Ning, Chiamvimonvat, Nipavan, Carnes, Cynthia A., Franzini-Armstrong, Clara, Györke, Sandor, Periasamy, Muthu
Médium: Artigo
Jazyk:Inglês
Vydáno: 2007
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2717009/
https://ncbi.nlm.nih.gov/pubmed/17449018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cardiores.2007.03.002
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