Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Introduction The mechanisms that lead to cognitive impairment associated with COVID‐19
are not well understood. Methods Brain lysates from control and COVID‐19 patients were …

Ryanodine receptor type 2 (RyR2) is the principal intracellular calcium release channel in
the cardiac sarcoplasmic reticulum (SR). Pathological RyR2 hyperactivity generates …

The ryanodine receptor (RyR)/calcium release channel on the sarcoplasmic reticulum (SR)
is required for excitation-contraction coupling in skeletal and cardiac muscle. Inherited …

Congenital myopathies are rare and severe genetic diseases affecting the skeletal muscle
function in children and adults. They present a variable spectrum of phenotypes and a …

We report the first correction from prime editing a mutation in the RYR1 gene, paving the
way to gene therapies for RYR1-related myopathies. The RYR1 gene codes for a calcium …

Essential Tremor (ET) is a prevalent neurological disease characterized by an 8–10 Hz
action tremor. Molecular mechanisms of ET remain poorly understood. Clinical data suggest …

The sarco/endoplasmic reticulum Ca-ATPase (SERCA) is a P-type ion pump that transports
Ca2+ from the cytosol into the endoplasmic/sarcoplasmic reticulum (ER/SR) in most …

Physiological muscle contraction requires an intact ligand gating mechanism of the
ryanodine receptor 1 (RyR1), the Ca2+-release channel of the sarcoplasmic reticulum …

Variants in the ryanodine receptor-1 gene (RYR1) have been associated with a wide range
of neuromuscular conditions, including various congenital myopathies and malignant …