Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death

Cardiac ryanodine receptor calcium release deficiency syndrome

(2021) Bo Sun et al.   Science Translational Medicine

The Central Domain of Cardiac Ryanodine Receptor Governs Channel Activation, Regulation, and Stability

(2020) Wenting Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular basis for allosteric regulation of the type 2 ryanodine receptor channel gating by key modulators

(2019) Ximin Chi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

(2017) Yusuke Fujii et al.   HEART RHYTHM

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia

(2017) Thomas M. Roston et al.   JOURNAL OF ELECTROCARDIOLOGY

Structural Basis for Gating and Activation of RyR1

(2016) Amédée des Georges et al.   CELL

Enhanced Cytosolic Ca2+Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias

(2016) Zhichao Xiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural basis for the gating mechanism of the type 2 ryanodine receptor RyR2

(2016) Wei Peng et al.   SCIENCE

The EF-hand Ca2+Binding Domain Is Not Required for Cytosolic Ca2+Activation of the Cardiac Ryanodine Receptor

(2015) Wenting Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function

(2015) Yan-Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction

(2014) S. Ohno et al.   EUROPACE

A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia

(2014) Alfredo Di Pino et al.   HEART RHYTHM

Structure of a mammalian ryanodine receptor

(2014) Ran Zalk et al.   NATURE

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution

(2014) Zhen Yan et al.   NATURE

Architecture and conformational switch mechanism of the ryanodine receptor

(2014) Rouslan G. Efremov et al.   NATURE

The ryanodine receptor store-sensing gate controls Ca2+ waves and Ca2+-triggered arrhythmias

(2014) Wenqian Chen et al.   NATURE MEDICINE

The CPVT-associated RyR2 mutation G230C enhances store overloadinduced Ca2+release and destabilizes the N-terminal domains

(2013) Yingjie Liu et al.   BIOCHEMICAL JOURNAL

S4153R Is a Gain-of-Function Mutation in the Cardiac Ca2+ Release Channel Ryanodine Receptor Associated With Catecholaminergic Polymorphic Ventricular Tachycardia and Paroxysmal Atrial Fibrillation

(2013) Pavel Zhabyeyev et al.   CANADIAN JOURNAL OF CARDIOLOGY

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface

(2013) Lynn Kimlicka et al.   Nature Communications

Calcium Leak Through Ryanodine Receptors Leads to Atrial Fibrillation in 3 Mouse Models of Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Jian Shan et al.   CIRCULATION RESEARCH

Abnormal Termination of Ca 2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

(2012) Yijun Tang et al.   CIRCULATION RESEARCH

Heterogeneity of Ryanodine Receptor Dysfunction in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Randall Loaiza et al.   CIRCULATION RESEARCH

Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

(2012) David J. Tester et al.   MAYO CLINIC PROCEEDINGS

Cardiac Sarcoplasmic Reticulum Calcium Leak: Basis and Roles in Cardiac Dysfunction

(2011) Donald M. Bers   Annual Review of Physiology

Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis

(2011) Silvia G. Priori et al.   CIRCULATION RESEARCH

Carvedilol and its new analogs suppress arrhythmogenic store overload–induced Ca2+ release

(2011) Qiang Zhou et al.   NATURE MEDICINE

The Deletion of Exon 3 in the Cardiac Ryanodine Receptor Is Rescued by β Strand Switching

(2011) Paolo A. Lobo et al.   STRUCTURE

Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation

(2010) Simon Sedej et al.   CARDIOVASCULAR RESEARCH

Catecholaminergic Polymorphic Ventricular Tachycardia Is Caused by Mutation-Linked Defective Conformational Regulation of the Ryanodine Receptor

(2010) Hitoshi Uchinoumi et al.   CIRCULATION RESEARCH

High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening

(2010) K. H. Haugaa et al.   EUROPACE

Cardiac Channel Molecular Autopsy for Sudden Unexpected Death in Epilepsy

(2010) Jonathan N. Johnson et al.   JOURNAL OF CHILD NEUROLOGY

The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

(2010) Ching-Chieh Tung et al.   NATURE

Ryanodine receptor (RyR2) mutations in sudden cardiac death: Studies in extended pedigrees and phenotypic characterization in vitro

(2009) Annukka Marjamaa et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Caffeine induces Ca2+release by reducing the threshold for luminal Ca2+activation of the ryanodine receptor

(2008) Huihui Kong et al.   BIOCHEMICAL JOURNAL

Increased Ca 2+ Sensitivity of the Ryanodine Receptor Mutant RyR2 R4496C Underlies Catecholaminergic Polymorphic Ventricular Tachycardia

(2008) María Fernández-Velasco et al.   CIRCULATION RESEARCH

Sudden Death in a Young Man with Catecholaminergic Polymorphic Ventricular Tachycardia and Paroxysmal Atrial Fibrillation

(2008) STEPHEN PIZZALE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY