Associated Papers
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 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
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
Structural basis for ryanodine receptor type 2 leak in heart failure and arrhythmogenic disorders.
Miotto MC et al.
Nature Communications, 2024
Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling.
Xia Y et al.
Cardiovascular Research, 2024
Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death.
Qian Y 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, 2023
A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia.
Li S et al.
Clinical and Experimental Pharmacology & Physiology, 2023
Molecular Dynamics Simulations of the Cardiac Ryanodine Receptor Type 2 (RyR2) Gating Mechanism.
Greene D et al.
The Journal of Physical Chemistry. B, 2022
Cytosolic Ca2+-dependent Ca2+ release activity primarily determines the ER Ca2+ level in cells expressing the CPVT-linked mutant RYR2.
Kurebayashi N et al.
The Journal of General Physiology, 2022
Uptake-leak balance of SR Ca2+ determines arrhythmogenic potential of RyR2R420Q+/- cardiomyocytes.
Lopez R et al.
Journal of Molecular and Cellular Cardiology, 2022
An Optogenetic Arrhythmia Model-Insertion of Several Catecholaminergic Polymorphic Ventricular Tachycardia Mutations Into Caenorhabditis elegans UNC-68 Disturbs Calstabin-Mediated Stabilization of the Ryanodine Receptor Homolog.
Engel MA et al.
Frontiers in Physiology, 2022
A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child.
Hu J et al.
Frontiers in Pediatrics, 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
Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.
Micheu MM et al.
World Journal of Stem Cells, 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
The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability.
Guo W et al.
The Journal of Biological Chemistry, 2020
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
CRISPR/Cas9 Gene editing of RyR2 in human stem cell-derived cardiomyocytes provides a novel approach in investigating dysfunctional Ca2+ signaling.
Wei H et al.
Cell Calcium, 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
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
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.
Katz G et al.
Current Problems in Cardiology, 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
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
Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin.
Liu N et al.
Cardiovascular Research, 2008
Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction.
Thomas NL et al.
Biochemical Society Transactions, 2007
Sarcoplasmic reticulum calcium leak and cardiac arrhythmias.
Chelu MG et al.
Biochemical Society Transactions, 2007
Localization of an NH(2)-terminal disease-causing mutation hot spot to the "clamp" region in the three-dimensional structure of the cardiac ryanodine receptor.
Wang R et al.
The Journal of Biological Chemistry, 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