Article
Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia.
The Journal of clinical investigation - 1 Sept 2006
Knollmann Björn C, Chopra Nagesh, Hlaing Thinn, Akin Brandy, Yang Tao, Ettensohn Kristen, Knollmann Barbara E C, Horton Kenneth D, Weissman Neil J, Holinstat Izabela, Zhang Wei, Roden Dan M, Jones Larry R, Franzini-Armstrong Clara, Pfeifer Karl
Abstract excerpt
Cardiac calsequestrin (Casq2) is thought to be the key sarcoplasmic reticulum (SR) Ca2+ storage protein essential for SR Ca2+ release in mammalian heart. Human CASQ2 mutations are associated with catecholaminergic ventricular tachycardia. However, homozygous mutation carriers presumably lacking functional Casq2 display surprisingly normal cardiac contractility. Here we show that Casq2-null mice are viable and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.