Article
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
Pediatric cardiology - 1 Aug 2012
Faggioni Michela, Kryshtal Dmytro O, Knollmann Björn C
Abstract excerpt
Cardiac calsequestrin (Casq2) is the major Ca2+ binding protein in the sarcoplasmic reticulum, which is the principle Ca2+ storage organelle of cardiac muscle. During the last decade, experimental studies have provided new concepts on the role of Casq2 in the regulation of cardiac muscle Ca2+ handling. Furthermore, mutations in the gene encoding for cardiac calsequestrin, CASQ2, cause a rare but severe form of...
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