Associated Papers
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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Catecholaminergic polymorphic ventricular tachycardia-linked ryanodine receptor variants exhibit domain-specific calcium leak and calmodulin affinity properties.
Uchinoumi H et al.
The Journal of Physiology, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart.
Paudel R et al.
Current Issues in Molecular Biology, 2024
Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.
Beqaj H et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Molecular Dynamics Simulations of the Cardiac Ryanodine Receptor Type 2 (RyR2) Gating Mechanism.
Greene D et al.
The Journal of Physical Chemistry. B, 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
Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R.
Zhang XH et al.
Heart Rhythm, 2021
Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.
Song J et al.
Frontiers in Pharmacology, 2021
Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report.
Seidlmayer LK et al.
Journal of Medical Case Reports, 2018
Antiarrhythmic Effects of Carvedilol and Flecainide in Cardiomyocytes Derived from Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
Pölönen RP et al.
Stem Cells International, 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
Endoplasmic Reticulum Stress and Ca2+ Depletion Differentially Modulate the Sterol Regulatory Protein PCSK9 to Control Lipid Metabolism.
Lebeau P et al.
The Journal of Biological Chemistry, 2017
Slowed depolarization and irregular repolarization in catecholaminergic polymorphic ventricular tachycardia: a study from cellular Ca2+ transients and action potentials to clinical monophasic action potentials and electrocardiography.
Paavola J et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2016
Calcium signaling in human stem cell-derived cardiomyocytes: Evidence from normal subjects and CPVT afflicted patients.
Zhang XH et al.
Cell Calcium, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Short-coupled polymorphic ventricular tachycardia at rest linked to a novel ryanodine receptor (RyR2) mutation: leaky RyR2 channels under non-stress conditions.
Cheung JW et al.
International Journal of Cardiology, 2015
Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models.
Penttinen K et al.
Plos One, 2015
Novel Analysis Software for Detecting and Classifying Ca2+ Transient Abnormalities in Stem Cell-Derived Cardiomyocytes.
Penttinen K 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
S4153R is a gain-of-function mutation in the cardiac Ca(2+) release channel ryanodine receptor associated with catecholaminergic polymorphic ventricular tachycardia and paroxysmal atrial fibrillation.
Zhabyeyev P et al.
The Canadian Journal of Cardiology, 2013
A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
Meli AC et al.
Circulation Research, 2011
Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.
Priori SG et al.
Circulation Research, 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
Ryanodine receptor-mediated arrhythmias and sudden cardiac death.
Blayney LM et al.
Pharmacology & Therapeutics, 2009
Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts.
Goddard CA et al.
Acta Physiologica (oxford, England), 2008
U-waves and T-wave peak to T-wave end intervals in patients with catecholaminergic polymorphic ventricular tachycardia, effects of beta-blockers.
Viitasalo M et al.
Heart Rhythm, 2008
Endoplasmic reticulum Ca2+ measurements reveal that the cardiac ryanodine receptor mutations linked to cardiac arrhythmia and sudden death alter the threshold for store-overload-induced Ca2+ release.
Jones PP et al.
The Biochemical Journal, 2008
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Sarcoplasmic reticulum calcium leak and cardiac arrhythmias.
Chelu MG et al.
Biochemical Society Transactions, 2007
The molecular basis of catecholaminergic polymorphic ventricular tachycardia: what are the different hypotheses regarding mechanisms?
Wehrens XH
Heart Rhythm, 2007
Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves.
Paavola J et al.
European Heart Journal, 2007
Diseases associated with altered ryanodine receptor activity.
Durham WJ et al.
Sub-cellular Biochemistry, 2007
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: are the channels the beginning and the end?
Jóna I et al.
Cardiovascular Research, 2006
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
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.
Postma AV et al.
Journal of Medical Genetics, 2005
Stabilisation of calstabin2--a new approach in sudden cardiac death.
Doggrell SA
Expert Opinion on Therapeutic Targets, 2005
Abnormal ryanodine receptor function in heart failure.
Yano M et al.
Pharmacology & Therapeutics, 2005
Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
Kontula K et al.
Cardiovascular Research, 2005
Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations.
Swan H et al.
Journal of Cardiovascular Electrophysiology, 2005
Calstabin2 - a new target in sudden cardiac death.
Doggrell SA
Expert Opinion on Therapeutic Targets, 2004
Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.
Wehrens XH et al.
Mayo Clinic Proceedings, 2004
Volatile anesthetics and succinylcholine in cardiac ryanodine receptor defects.
Swan H et al.
Anesthesia and Analgesia, 2004
Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak.
Lehnart SE et al.
Circulation, 2004
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
Laitinen PJ et al.
Annals of Medicine, 2004