In healthy muscle, the rapid release of calcium ions (Ca2+) with excitation–contraction (EC)
coupling, results in elevations in Ca2+ concentrations which can exceed 10-fold that of …

The Notch signaling pathway is a key regulator of skeletal muscle development and
regeneration. Over the past decade, the discoveries of three new muscle disease genes …

The sarcoplasmic reticulum of skeletal muscle cells is a highly ordered structure consisting
of an intricate network of tubules and cisternae specialized for regulating Ca2+ homeostasis …

Introduction Skeletal muscles contain large numbers of high-molecular-mass protein
complexes in elaborate membrane systems. Integral membrane proteins are involved in …

Muscle cramps are painful, sudden, involuntary muscle contractions that are generally self-
limiting. They are often part of the spectrum of normal human physiology and can be …

Trisomy X is the most frequent sex chromosome anomaly in women, but it is often
underdiagnosed postnatally because most patients do not show any clinical manifestation. It …

The sarcomere regulates striated muscle contraction. This structure is composed of several
myofibril proteins, isoforms of which are encoded by genes specific to either the heart or …

The well-known insulin-like growth factor 1 (IGF1)/IGF-1 receptor (IGF-1R) signaling
pathway is overexpressed in many tumors, and is thus an attractive target for cancer …

Exercise-induced muscle stiffness is the hallmark of Brody disease, an autosomal recessive
myopathy due to biallelic pathogenic variants in ATP2A1, encoding the sarcoplasmic …

ABSTRACT Aims Sarcoendoplasmic reticulum Ca2+‐ATPase 2 (SERCA2), encoded by
ATP2A2, is a key protein involved in intracellular Ca2+ homeostasis. The SERCA2a isoform …