Associated Papers
Loss-of-Function Mutation RyR2-A4860G Confers an Arrhythmia Phenotype in Mice Inconsistent With Calcium Release Deficiency Syndrome.
Pattridge HK et al.
Circulation. Arrhythmia and Electrophysiology, 2026
CPVT1 point mutations in RyR2 S5 and S6 segments and their Ca2+ signaling consequence.
Zhang XH et al.
Cell Calcium, 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
Interplay Between Ryanodine Receptor Arrangement and Function: Implications for (Patho)physiological Control of Calcium Release.
Gonano LA et al.
Circulation Research, 2025
Understanding CPVT pathogenic mechanisms based on mutation location within RyR2: towards personalized medicine?
Benitah JP et al.
The Journal of Physiology, 2025
The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Lv T et al.
Journal of Cardiovascular Electrophysiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 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
RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.
Abdullah NM et al.
Translational Pediatrics, 2024
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 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
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
Hirose S 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, 2022
Caffeine blocks SREBP2-induced hepatic PCSK9 expression to enhance LDLR-mediated cholesterol clearance.
Lebeau PF et al.
Nature Communications, 2022
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.
Li Y et al.
Circulation. Arrhythmia and Electrophysiology, 2021
A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response.
Blancard M et al.
Journal of Personalized Medicine, 2021
Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia: JACC Focus Seminar 5/5.
Priori SG et al.
Journal of the American College of Cardiology, 2021
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.
Zhong X et al.
Bioscience Reports, 2021
The role of calcium homeostasis remodeling in inherited cardiac arrhythmia syndromes.
Hamilton S et al.
Pflugers Archiv : European Journal of Physiology, 2021
Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function.
Seidel M et al.
Cardiovascular Research, 2021
Cardiac ryanodine receptor calcium release deficiency syndrome.
Sun B et al.
Science Translational Medicine, 2021
Molecular characterization of the calcium release channel deficiency syndrome.
Tester DJ et al.
Jci Insight, 2020
[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].
Kurebayashi N et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2020
BASIC AND CLINICAL INSIGHTS IN CATECHOLAMINERGIC (FAMILIAL) POLYMORPHIC VENTRICULAR TACHYCARDIA.
Márquez MF et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2019
Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2).
Bongianino R et al.
Circulation Research, 2017
Increased mitochondrial nanotunneling activity, induced by calcium imbalance, affects intermitochondrial matrix exchanges.
Lavorato M et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia.
Fujii Y et al.
Heart Rhythm, 2017
Suppression-of-function mutations in the cardiac ryanodine receptor: Emerging evidence for a novel arrhythmia syndrome?
Roston TM et al.
Heart Rhythm, 2017
Suppression of ryanodine receptor function prolongs Ca2+ release refractoriness and promotes cardiac alternans in intact hearts.
Zhong X et al.
The Biochemical Journal, 2016
Catecholaminergic Polymorphic Ventricular Tachycardia.
Lieve KV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle.
Ríos E et al.
The Journal of General Physiology, 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
Arrhythmogenic mechanisms in ryanodine receptor channelopathies.
Zhao YT et al.
Science China. Life Sciences, 2015
[Catecholaminergic polymorphic ventricular tachycardia; possible diagnosis in cases of syncope and sudden death of family members].
Lieve KV et al.
Nederlands Tijdschrift Voor Geneeskunde, 2015
Conformational dynamics inside amino-terminal disease hotspot of ryanodine receptor.
Zhong X et al.
Structure (london, England : 1993), 2013
New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2013
Cardiac ryanodine receptors control heart rate and rhythmicity in adult mice.
Bround MJ et al.
Cardiovascular Research, 2012
Localization of the dantrolene-binding sequence near the FK506-binding protein-binding site in the three-dimensional structure of the ryanodine receptor.
Wang R et al.
The Journal of Biological Chemistry, 2011
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction.
Thomas NL et al.
Febs Letters, 2010
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 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
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
Localization of PKA phosphorylation site, Ser(2030), in the three-dimensional structure of cardiac ryanodine receptor.
Jones PP et al.
The Biochemical Journal, 2008
Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death.
Jiang D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007