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 …

Junctophilins (JPHs) comprise a family of structural proteins that connect the plasma
membrane to intracellular organelles such as the endo/sarcoplasmic reticulum (ER/SR) …

Dynamin superfamily proteins (DSPs) mediate membrane fission and fusion necessary for
endocytosis, organelle biogenesis and maintenance, as well as for bacterial cytokinesis …

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 …

Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle
weakness and structural defects including fiber hypotrophy and organelle mispositioning …

X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by
mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal …

The bridging integrator 1 gene (BIN1) is a major genetic risk factor for Alzheimer's disease
(AD). In this report, we investigated how BIN1-dependent pathophysiological processes …

Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-
function mutations in its gene cause centronuclear myopathies. Here, we investigate the …

The cavin proteins are essential for caveola biogenesis and function. Here, we identify a role
for the muscle-specific component, Cavin4, in skeletal muscle T-tubule development by …

Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no
effective therapy is currently available. We have previously shown that reduction of the large …