Associated Papers
Gene Therapy for Inherited Cardiac Arrhythmias.
Turkieltaub Paredes MR et al.
Journal of Cardiovascular Translational Research, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
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
Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.
Luo S et al.
Asian Heart Journal, 2025
Gene Therapy for Cardiac Arrhythmias: Mechanisms, Modalities and Therapeutic Applications.
Karakasis P et al.
Medical Sciences (basel, Switzerland), 2025
Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.
Schneider L et al.
Journal of the American Heart Association, 2025
An inherited life-threatening arrhythmia model established by screening randomly mutagenized mice.
Okabe Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Gene and stem cell therapy for inherited cardiac arrhythmias.
Zhang ZH et al.
Pharmacology & Therapeutics, 2024
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
Screening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.
Takenaka M et al.
Molecular Pharmacology, 2023
The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.
Marabelli C et al.
Biomolecules, 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
Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Gao J et al.
Circulation. Arrhythmia and Electrophysiology, 2023
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Zaffran S et al.
International Journal of Molecular Sciences, 2023
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.
Keefe JA et al.
Archives of Toxicology, 2023
Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2.
Wleklinski MJ et al.
Circulation Research, 2022
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.
Leung J et al.
Life (basel, Switzerland), 2022
Animal Models to Study Cardiac Arrhythmias.
Blackwell DJ et al.
Circulation Research, 2022
The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.
Sibbles ET et al.
Biophysical Reviews, 2022
Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation.
Yin L et al.
Circulation Research, 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
The role of calcium homeostasis remodeling in inherited cardiac arrhythmia syndromes.
Hamilton S et al.
Pflugers Archiv : European Journal of Physiology, 2021
Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.
Song J et al.
Frontiers in Pharmacology, 2021
The structure of a calsequestrin filament reveals mechanisms of familial arrhythmia.
Titus EW et al.
Nature Structural & Molecular Biology, 2020
Phylogenetic and biochemical analysis of calsequestrin structure and association of its variants with cardiac disorders.
Wang Q et al.
Scientific Reports, 2020
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.
Ng K et al.
Circulation, 2020
Molecular adaptation to calsequestrin 2 (CASQ2) point mutations leading to catecholaminergic polymorphic ventricular tachycardia (CPVT): comparative analysis of R33Q and D307H mutants.
Valle G et al.
Journal of Muscle Research and Cell Motility, 2020
Gene therapy for inherited arrhythmias.
Bezzerides VJ et al.
Cardiovascular Research, 2020
Integrin β1D Deficiency-Mediated RyR2 Dysfunction Contributes to Catecholamine-Sensitive Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy.
Wang Y et al.
Circulation, 2020
Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.
Cacheux M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q et al.
Molecular Genetics & Genomic Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Ryanodine receptor dysfunction in human disorders.
Kushnir A et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Genetic Testing for Inherited Cardiac Arrhythmias: Current State-of-the-Art and Future Avenues.
Hylind RJ et al.
The Journal of Innovations in Cardiac Rhythm Management, 2018
Gene Transfer of Engineered Calmodulin Alleviates Ventricular Arrhythmias in a Calsequestrin-Associated Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia.
Liu B et al.
Journal of the American Heart Association, 2018
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
Genetic causes of sudden cardiac death in the young.
Mazzanti A et al.
Current Opinion in Cardiology, 2017
Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
Paludan-Müller C et al.
Clinical Genetics, 2017
New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes.
Gray B et al.
Circulation. Cardiovascular Genetics, 2016
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia.
Lodola F et al.
Cell Death & Disease, 2016
Current topics in catecholaminergic polymorphic ventricular tachycardia.
Sumitomo N
Journal of Arrhythmia, 2016
Clinical Challenges in Catecholaminergic Polymorphic Ventricular Tachycardia.
Imberti JF et al.
Heart, Lung & Circulation, 2016
Genetic variations involved in sudden cardiac death and their associations and interactions.
Wei D et al.
Heart Failure Reviews, 2016
Neuronal Na+ Channels Are Integral Components of Pro-arrhythmic Na+/Ca2+ Signaling Nanodomain That Promotes Cardiac Arrhythmias During β-adrenergic Stimulation.
Radwański PB et al.
Jacc. Basic to Translational Science, 2016
Catecholaminergic Polymorphic Ventricular Tachycardia.
Lieve KV et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2016
Polymorphism identification and cardiac gene expression analysis of the calsequestrin 2 gene in broiler chickens with sudden death syndrome.
Basaki M et al.
British Poultry Science, 2016