Arrhythmogenic Human Calmodulin Missense Mutants Divergent Regulation of Ryanodine Receptor 2 Calcium Release Channels
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چکیده
Johnson, Michela Faggioni, Walter J. Chazin, Derek Laver, Alfred L. George, Jr, Razvan L. Hyun Seok Hwang, Florentin R. Nitu, Yi Yang, Kafa Walweel, Laetitia Pereira, Christopher N. Arrhythmogenic Human Calmodulin Missense Mutants Divergent Regulation of Ryanodine Receptor 2 Calcium Release Channels by Print ISSN: 0009-7330. Online ISSN: 1524-4571 Copyright © 2014 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Circulation Research doi: 10.1161/CIRCRESAHA.114.303391 2014;114:1114-1124; originally published online February 21, 2014; Circ Res. http://circres.ahajournals.org/content/114/7/1114 World Wide Web at: The online version of this article, along with updated information and services, is located on the http://circres.ahajournals.org/content/suppl/2014/02/21/CIRCRESAHA.114.303391.DC1.html Data Supplement (unedited) at:
منابع مشابه
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
RATIONALE Calmodulin (CaM) mutations are associated with an autosomal dominant syndrome of ventricular arrhythmia and sudden death that can present with divergent clinical features of catecholaminergic polymorphic ventricular tachycardia (CPVT) or long QT syndrome (LQTS). CaM binds to and inhibits ryanodine receptor (RyR2) Ca release channels in the heart, but whether arrhythmogenic CaM mutants...
متن کاملARVC-Related Mutations in Divergent Region 3 Alter Functional Properties of the Cardiac Ryanodine Receptor
Two single-nucleotide polymorphisms in the type 2 ryanodine receptor (RyR2) leading to the nonsynonymous amino acid replacements G1885E and G1886S are associated with arrhythmogenic right ventricular cardiomyopathy in patients who are carrying both of the corresponding RyR2 alleles. The functional properties of HEK293 cell lines isogenically expressing RyR2 mutants associated with arrhythmogeni...
متن کاملBioinformatics Domain Structure Prediction and Homology Modeling of Human Ryanodine Receptor 2
Ryanodine receptors (RyRs) are homotetrameric intracellular calcium release channels in the membranes of the endoplasmic (ER) and sarcoplasmic reticulum (SR) (George et al. 2005, Meissner 2002, 2004). Each subunit consists of ~5000 amino acid residues (George et al. 2005). There are three isoforms of the ryanodine receptor: the RyR1 isoform is expressed predominantly in skeletal muscle, the RyR...
متن کاملBioinformatics Domain Structure Prediction and Homology Modeling of Human Ryanodine Receptor 2
Ryanodine receptors (RyRs) are homotetrameric intracellular calcium release channels in the membranes of the endoplasmic (ER) and sarcoplasmic reticulum (SR) (George et al. 2005, Meissner 2002, 2004). Each subunit consists of ~5000 amino acid residues (George et al. 2005). There are three isoforms of the ryanodine receptor: the RyR1 isoform is expressed predominantly in skeletal muscle, the RyR...
متن کاملRyanodine receptor phosphorylation by calcium/calmodulin-dependent protein kinase II promotes life-threatening ventricular arrhythmias in mice with heart failure.
BACKGROUND approximately half of patients with heart failure die suddenly as a result of ventricular arrhythmias. Although abnormal Ca(2+) release from the sarcoplasmic reticulum through ryanodine receptors (RyR2) has been linked to arrhythmogenesis, the molecular mechanisms triggering release of arrhythmogenic Ca(2+) remain unknown. We tested the hypothesis that increased RyR2 phosphorylation ...
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تاریخ انتشار 2014