Associated Papers
Compromised repolarization reserve in a murine model of catecholaminergic polymorphic ventricular tachycardia caused by RyR2-R420Q mutation.
Zissimopoulos S et al.
Journal of Molecular and Cellular Cardiology, 2025
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Chang A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.
Luo S et al.
Asian Heart Journal, 2025
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
The V2475F CPVT1 mutation yields distinct RyR2 channel populations that differ in their responses to cytosolic Ca2+ and Mg2.
Wilson AD et al.
The Journal of Physiology, 2021
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
The role of calcium homeostasis remodeling in inherited cardiac arrhythmia syndromes.
Hamilton S et al.
Pflugers Archiv : European Journal of Physiology, 2021
Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Ohno S et al.
Plos One, 2021
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.
Miyata K et al.
Internal Medicine (tokyo, Japan), 2018
Extensive Ca2+ leak through K4750Q cardiac ryanodine receptors caused by cytosolic and luminal Ca2+ hypersensitivity.
Uehara A et al.
The Journal of General Physiology, 2017
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.
Wangüemert F et al.
Heart Rhythm, 2015
Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function.
Zhao YT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Determining the pathogenicity of genetic variants associated with cardiac channelopathies.
Campuzano O et al.
Scientific Reports, 2015
Arrhythmogenic mechanisms in ryanodine receptor channelopathies.
Zhao YT et al.
Science China. Life Sciences, 2015
Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Ohno S et al.
Plos One, 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
Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.
Gu Y et al.
Protein & Cell, 2013
The CPVT-associated RyR2 mutation G230C enhances store overload-induced Ca2+ release and destabilizes the N-terminal domains.
Liu Y et al.
The Biochemical Journal, 2013
Heterogeneity of ryanodine receptor dysfunction in a mouse model of catecholaminergic polymorphic ventricular tachycardia.
Loaiza R et al.
Circulation Research, 2013
Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.
Tester DJ et al.
Mayo Clinic Proceedings, 2011
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
Medeiros-Domingo A et al.
Journal of the American College of Cardiology, 2009
Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.
Jiang D et al.
Circulation Research, 2005
Pathogenesis of unexplained drowning: new insights from a molecular autopsy.
Tester DJ et al.
Mayo Clinic Proceedings, 2005