CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca2+ release termination and diminishes protein expression

The Central domain of RyR1 is the transducer for long-range allosteric gating of channel opening

(2016) Xiao-Chen Bai et al.   CELL RESEARCH

Catecholaminergic Polymorphic Ventricular Tachycardia in Children

(2015) Thomas M. Roston et al.   Circulation-Arrhythmia and Electrophysiology

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

(2015) Fernando Wangüemert et al.   HEART RHYTHM

Roles of the NH2-terminal Domains of Cardiac Ryanodine Receptor in Ca2+Release Activation and Termination

(2015) Yingjie Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2014) Zhen Yan et al.   NATURE

The Cardiac Ryanodine Receptor N-Terminal Region Contains an Anion Binding Site that Is Targeted by Disease Mutations

(2013) Lynn Kimlicka et al.   STRUCTURE

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

(2013) Lynn Kimlicka et al.   Nature Communications

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

(2012) Mette Nyegaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Yijun Tang et al.   CIRCULATION RESEARCH

Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Christian van der Werf et al.   Circulation-Arrhythmia and Electrophysiology

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

Ligand-dependent Conformational Changes in the Clamp Region of the Cardiac Ryanodine Receptor

(2012) Xixi Tian et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis

(2011) Silvia G. Priori 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

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

(2010) Ching-Chieh Tung et al.   NATURE

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Meiso Hayashi et al.   CIRCULATION

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

Crystal structure of type I ryanodine receptor amino-terminal  -trefoil domain reveals a disease-associated mutation "hot spot" loop

(2009) F. J. Amador et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Crystal Structures of the N-Terminal Domains of Cardiac and Skeletal Muscle Ryanodine Receptors: Insights into Disease Mutations

(2009) Paolo Antonio Lobo et al.   STRUCTURE

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

(2008) Peter P. Jones et al.   BIOCHEMICAL JOURNAL