Molecular, subcellular, and arrhythmogenic mechanisms in genetic RyR2 disease
ED Fowler, S Zissimopoulos - Biomolecules, 2022 - mdpi.com
The ryanodine receptor (RyR2) has a critical role in controlling Ca2+ release from the
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …
Understanding the molecular basis of cardiomyopathy
ML Bang, J Bogomolovas… - American Journal of …, 2022 - journals.physiology.org
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …
be caused by mutations in a wide range of proteins located in different cellular …
Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome
S Hirose, T Murayama, N Tetsuo, M Hoshiai… - EP …, 2022 - academic.oup.com
Aims Gain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel
(RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas …
(RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas …
Clinical and functional characterization of ryanodine receptor 2 variants implicated in calcium-release deficiency syndrome
Importance Calcium-release deficiency syndrome (CRDS), which is caused by loss-of-
function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular …
function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular …
Clinical genetics of inherited arrhythmogenic disease in the pediatric population
E Martínez-Barrios, S Cesar, J Cruzalegui… - Biomedicines, 2022 - mdpi.com
Sudden death is a rare event in the pediatric population but with a social shock due to its
presentation as the first symptom in previously healthy children. Comprehensive autopsy in …
presentation as the first symptom in previously healthy children. Comprehensive autopsy in …
Racial disparities in ion Channelopathies and inherited cardiovascular diseases associated with sudden cardiac death
M Chahine, JM Fontaine, M Boutjdir - Journal of the American …, 2022 - Am Heart Assoc
Cardiovascular disease (CVD) continues to be the most common cause of death worldwide,
and cardiac arrhythmias account for approximately one half of these deaths. The morbidity …
and cardiac arrhythmias account for approximately one half of these deaths. The morbidity …
[HTML][HTML] Uptake-leak balance of SR Ca2+ determines arrhythmogenic potential of RyR2R420Q+/− cardiomyocytes
R Lopez, R Janicek, M Fernandez-Tenorio… - Journal of molecular and …, 2022 - Elsevier
Mutations of the RyR2 are channelopathies that can predispose to life threatening
catecholaminergic polymorphic ventricular tachycardias (CPVTs) during exercise or stress …
catecholaminergic polymorphic ventricular tachycardias (CPVTs) during exercise or stress …
The electrocardiogram in the diagnosis and management of patients with left ventricular non-compaction
GD Sanna, A Piga, G Parodi, G Sinagra… - Current Heart Failure …, 2022 - Springer
Abstract Purpose of the Review Left ventricular non-compaction (LVNC) is characterised by
prominent left ventricular trabeculae and deep inter-trabecular recesses. Although …
prominent left ventricular trabeculae and deep inter-trabecular recesses. Although …
Correction:“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
The original version of this article contained a mistake. During the eproofing procedure, the
authors found that the entire 74 references of the 2 tables were not included. All these …
authors found that the entire 74 references of the 2 tables were not included. All these …
[PDF][PDF] Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease. Biomolecules 2022, 12, 1030
ED Fowler, S Zissimopoulos - Molecular Pathogenesis of Cardiac …, 2022 - mdpi.com
The ryanodine receptor (RyR2) has a critical role in controlling Ca2+ release from the
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …