The main molecular mechanisms explaining the well-established antioxidant and reducing
activity of N-acetylcysteine (NAC), the N-acetyl derivative of the natural amino acid l …

Calcium ions are highly versatile intracellular signals that regulate many cellular processes.
The key to achieving this pleiotropic role is the spatiotemporal control of calcium …

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common class of
congenital myopathies. Historically, RYR1-RM classification and diagnosis have been …

Skeletal muscle contraction relies on both high-fidelity calcium (Ca2+) signals and robust
capacity for adenosine triphosphate (ATP) generation. Ca2+ release units (CRUs) are highly …

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 …

In recent years, growing evidence has suggested a prominent role of oxidative stress in the
pathophysiology of several early-and adult-onset muscle disorders, although effective …

Introduction: It has been proposed that an increased susceptivity to oxidative stress caused
by the absence of the protein dystrophin from the inner surface of the sarcolemma is a …

RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel
(RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations …

Calsequestrin (CASQ) is the most abundant Ca 2+ binding protein localized in the
sarcoplasmic reticulum (SR) of skeletal and cardiac muscle. The genome of vertebrates …

Duchenne muscular dystrophy (DMD), an X-linked disorder caused by loss-of-function
mutations in the dystrophin gene, is characterized by progressive muscle degeneration and …