Associated Papers
Ryanodine receptor 2 mutations in catecholaminergic polymorphic ventricular tachycardia: From molecular mechanisms to precision medicine.
Sharma V
World Journal of Cardiology, 2026
Human-derived cardiac-neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron.
Li N et al.
The Journal of Physiology, 2026
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
Delinière A et al.
The Journal of Physiology, 2025
Arrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.
Cho MJ et al.
The American Journal of 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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Development of selective RyR2 inhibitors with a pharmacophore containing a parabanic acid skeleton.
Ishida R et al.
Rsc Medicinal Chemistry, 2025
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
Discovery and Structure-Activity Relationship of a Ryanodine Receptor 2 Inhibitor.
Ishida R et al.
Chemical & Pharmaceutical Bulletin, 2024
Screening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.
Takenaka M et al.
Molecular Pharmacology, 2023
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Sharma AK et al.
Scientific Reports, 2023
Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia.
Pérez PR et al.
Heart, Lung & Circulation, 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
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
Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.
Shimamoto K et al.
Heart (british Cardiac Society), 2022
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.
Mazzanti A et al.
Jama 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
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 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
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.
Mojarad BA et al.
Translational Psychiatry, 2021
Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.
Song J et al.
Frontiers in Pharmacology, 2021
[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].
Kurebayashi N et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2020
Ion channel gating in cardiac ryanodine receptors from the arrhythmic RyR2-P2328S mouse.
Salvage SC et al.
Journal of Cell Science, 2019
Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.
Frontera A et al.
Journal of the American Heart Association, 2019
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
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
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.
Miyata K et al.
Internal Medicine (tokyo, Japan), 2018
Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.
Xiong J et al.
Journal of Molecular and Cellular Cardiology, 2018
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.
Kapplinger JD et al.
Circulation. Genomic and Precision Medicine, 2018
An optogenetic arrhythmia model to study catecholaminergic polymorphic ventricular tachycardia mutations.
Fischer E et al.
Scientific Reports, 2017
Suppression of Arrhythmia by Enhancing Mitochondrial Ca2+ Uptake in Catecholaminergic Ventricular Tachycardia Models.
Schweitzer MK et al.
Jacc. Basic to Translational Science, 2017
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment.
Kawata H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia.
Imberti JF et al.
Heart, Lung & Circulation, 2016
R4496C RyR2 mutation impairs atrial and ventricular contractility.
Ferrantini C et al.
The Journal of General Physiology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Structural and functional interactions within ryanodine receptor.
Seidel M et al.
Biochemical Society Transactions, 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
Channel Activity of Cardiac Ryanodine Receptors (RyR2) Determines Potency and Efficacy of Flecainide and R-Propafenone against Arrhythmogenic Calcium Waves in Ventricular Cardiomyocytes.
Savio-Galimberti E 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
Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies.
Hsiao PY et al.
The Application of Clinical Genetics, 2013
Paradoxical effect of increased diastolic Ca(2+) release and decreased sinoatrial node activity in a mouse model of catecholaminergic polymorphic ventricular tachycardia.
Neco P et al.
Circulation, 2012
Targeting intracellular calcium cycling in catecholaminergic polymorphic ventricular tachycardia: a theoretical investigation.
Sung RJ et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2011
A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium.
Meli AC et al.
Circulation Research, 2011
Ryanodine receptor channelopathies.
Betzenhauser MJ et al.
Pflugers Archiv : European Journal of Physiology, 2010
Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction.
Thomas NL et al.
Febs Letters, 2010