A mutation in calsequestrin, CASQ2D307H, impairs Sarcoplasmic Reticulum Ca2+ handling and causes complex ventricular arrhythmias in mice

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 the CPVT p...

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Veröffentlicht in:	Cardiovascular research 2007-07, Vol.75 (1), p.69-78
Hauptverfasser:	DIRKSEN, Wessel P, LACOMBE, Veronique A, CAMES, Cynthia A, FRANZINI-ARMSTRONG, Clara, GYÖRKE, Sandor, PERIASAMY, Muthu, MEI CHI, KALYANASUNDARAM, Anuradha, VIATCHENKO -KARPINSKI, Serge, TERENTYEV, Dmitry, ZHIXIANG ZHOU, VEDAMOORTHYRAO, Srikanth, NING LIE, CHIAMVIMONVAT, Nipavan
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biological and medical sciences Caffeine - pharmacology Calcium - metabolism Calcium Signaling Calsequestrin - genetics Cardiac dysrhythmias Cardiology. Vascular system Cardiotonic Agents - pharmacology Death, Sudden, Cardiac - etiology Electrocardiography Heart Isoproterenol - pharmacology Medical sciences Mice Mice, Transgenic Microscopy, Confocal Models, Animal Mutation, Missense Myocytes, Cardiac - metabolism Myocytes, Cardiac - pathology Sarcoplasmic Reticulum - metabolism Tachycardia, Ventricular - genetics Tachycardia, Ventricular - metabolism Tachycardia, Ventricular - pathology
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