Inherited Dysfunction of Sarcoplasmic Reticulum Ca2+ Handling and Arrhythmogenesis

SG Priori, SRW Chen - Circulation research, 2011 - Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is …

Intracellular Ca2+ storage in health and disease: a dynamic equilibrium

E Sammels, JB Parys, L Missiaen, H De Smedt… - Cell calcium, 2010 - Elsevier
Homeostatic control of the endoplasmic reticulum (ER) both as the site for protein handling
(synthesis, folding, trafficking, disaggregation and degradation) and as a Ca2+ store is of …

Cardiac ryanodine receptor calcium release deficiency syndrome

B Sun, J Yao, M Ni, J Wei, X Zhong, W Guo… - Science translational …, 2021 - science.org
Cardiac ryanodine receptor (RyR2) gain-of-function mutations cause catecholaminergic
polymorphic ventricular tachycardia, a condition characterized by prominent ventricular …

[HTML][HTML] Modulation of cardiac ryanodine receptor 2 by calmodulin

D Gong, X Chi, J Wei, G Zhou, G Huang, L Zhang… - Nature, 2019 - nature.com
The high-conductance intracellular calcium (Ca2+) channel RyR2 is essential for the
coupling of excitation and contraction in cardiac muscle. Among various modulators …

Modeling of catecholaminergic polymorphic ventricular tachycardia with patient-specific human-induced pluripotent stem cells

I Itzhaki, L Maizels, I Huber, A Gepstein, G Arbel… - Journal of the American …, 2012 - jacc.org
Objectives: The goal of this study was to establish a patient-specific human-induced
pluripotent stem cells (hiPSCs) model of catecholaminergic polymorphic ventricular …

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

H Kong, PP Jones, A Koop, L Zhang, HJ Duff… - Biochemical …, 2008 - portlandpress.com
Caffeine has long been used as a pharmacological probe for studying RyR (ryanodine
receptor)-mediated Ca2+ release and cardiac arrhythmias. However, the precise …

Role of presenilins in neuronal calcium homeostasis

H Zhang, S Sun, A Herreman… - Journal of …, 2010 - Soc Neuroscience
Alzheimer's disease (AD) is a progressive and irreversible neurodegenerative disorder.
Familial AD (FAD) mutations in presenilins have been linked to calcium (Ca2+) signaling …

Calcium handling defects and cardiac arrhythmia syndromes

K Kistamás, R Veress, B Horvath, T Banyasz… - Frontiers in …, 2020 - frontiersin.org
Calcium ions (Ca2+) play a major role in the cardiac excitation-contraction coupling.
Intracellular Ca2+ concentration increases during systole and falls in diastole thereby …

[HTML][HTML] Inherited calcium channelopathies in the pathophysiology of arrhythmias

L Venetucci, M Denegri, C Napolitano… - Nature Reviews …, 2012 - nature.com
Regulation of calcium flux in the heart is a key process that affects cardiac excitability and
contractility. Degenerative diseases, such as coronary artery disease, have long been …

Abnormal Termination of Ca2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

Y Tang, X Tian, R Wang, M Fill, SRW Chen - Circulation research, 2012 - Am Heart Assoc
Rationale: Naturally occurring mutations in the cardiac ryanodine receptor (RyR2) have
been associated with both cardiac arrhythmias and cardiomyopathies. It is clear that delayed …