Associated Papers
The emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.
Rajha HE et al.
Journal of Physiology and Biochemistry, 2026
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.
Sibbles ET et al.
Biophysical Reviews, 2022
Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.
Song J et al.
Frontiers in Pharmacology, 2021
Phylogenetic and biochemical analysis of calsequestrin structure and association of its variants with cardiac disorders.
Wang Q et al.
Scientific Reports, 2020
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Ng K et al.
Circulation, 2020
Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.
Valle G et al.
Journal of Muscle Research and Cell Motility, 2020
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q et al.
Molecular Genetics & Genomic Medicine, 2019
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia.
Fujisawa T et al.
Case Reports in Genetics, 2019
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.
Gaunt TR et al.
Circulation. Cardiovascular Genetics, 2012
Catecholaminergic polymorphic ventricular tachycardia.
Leenhardt A et al.
Circulation. Arrhythmia and Electrophysiology, 2012
Calsequestrin mutations and catecholaminergic polymorphic ventricular tachycardia.
Faggioni M et al.
Pediatric Cardiology, 2012
Modeling Catecholaminergic Polymorphic Ventricular Tachycardia using Induced Pluripotent Stem Cell-derived Cardiomyocytes.
Novak A et al.
Rambam Maimonides Medical Journal, 2012
Calsequestrin 2 and arrhythmias.
Faggioni M et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2012
Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants.
Bal NC et al.
The Biochemical Journal, 2011
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
Priori SG et al.
Circulation Research, 2011
The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.
Kirchhefer U et al.
Journal of Molecular and Cellular Cardiology, 2010
The calsequestrin mutation CASQ2D307H does not affect protein stability and targeting to the junctional sarcoplasmic reticulum but compromises its dynamic regulation of calcium buffering.
Kalyanasundaram A et al.
The Journal of Biological Chemistry, 2010
Store overload-induced Ca2+ release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes.
MacLennan DH et al.
The Journal of Physiology, 2009
Ryanodine receptor and calsequestrin in arrhythmogenesis: what we have learnt from genetic diseases and transgenic mice.
Liu N et al.
Journal of Molecular and Cellular Cardiology, 2009
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.
Katz G et al.
Current Problems in Cardiology, 2009
Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin.
Valle G et al.
The Biochemical Journal, 2008
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia.
Song L et al.
The Journal of Clinical Investigation, 2007
Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
di Barletta MR et al.
Circulation, 2006
Mechanism underlying catecholaminergic polymorphic ventricular tachycardia and approaches to therapy.
Watanabe H et al.
Journal of Electrocardiology, 0