Article
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
The Journal of clinical investigation - 1 Jul 2007
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
Abstract excerpt
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(307/307)) or a CASQ2-null mutation (CASQ(DeltaE9/DeltaE9)). Both CASQ2 mutations caused identical consequences....
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