Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia

Catecholamine-induced polymorphic ventricular tachycardia (CPVT) is a familial disorder caused by cardiac ryanodine receptor type 2 (RyR2) or calsequestrin 2 (CASQ2) gene mutations. To define how CASQ2 mutations cause CPVT, we produced and studied mice carrying a human D307H missense mutation (CASQ(...

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Main Authors: Song, Lei, Alcalai, Ronny, Arad, Michael, Wolf, Cordula M., Toka, Okan, Conner, David A., Berul, Charles I., Eldar, Michael, Seidman, Christine E., Seidman, J.G.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2007
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1904315/
https://ncbi.nlm.nih.gov/pubmed/17607358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI31080
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