Ca2+-release channels are giant membrane proteins that control the release of Ca2+ from
the endoplasmic and sarcoplasmic reticulum. The two members, ryanodine receptors …

Most known disease-causing mutations occur in protein-coding regions of DNA. While some
of these involve a loss of protein function (eg, through premature stop codons or missense …

Cardiac optical mapping has proven to be a powerful technology for studying cardiovascular
function and disease. The development and scientific impact of this methodology are well …

Cardiac ryanodine receptor type 2 plays a key role in excitation–contraction coupling. The
ryanodine receptor type 2 channel protein is modulated by various post-translational …

RyR2 shares close to 70% with 2 other mammalian RyR isoforms15: RyR1 and RyR3. RyR1
is predominantly found in skeletal muscle, where it is activated directly by the L-type Ca2+ …

Cardiac arrhythmias can follow disruption of the normal cellular electrophysiological
processes underlying excitable activity and their tissue propagation as coherent wavefronts …

Abstract Ryanodine receptors (RyRs) are Ca2+ release channels in the sarcoplasmic
reticulum of skeletal and cardiac muscles and are essential for muscle contraction …

Background Polymorphic ventricular tachycardia (PMVT) is a rare genetic disease
associated with structurally normal hearts which in 8% of cases can lead to sudden cardiac …

Ryanodine receptors are large channels that release Ca2+ from the endoplasmic and
sarcoplasmic reticulum. Hundreds of RyR mutations can cause cardiac and skeletal muscle …

Background—Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal,
rare hereditary disease with an estimated prevalence of 1: 10 000. The genetic variants that …