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 …

Phosphoinositides (PIs) make up only a small fraction of cellular phospholipids, yet they
control almost all aspects of a cell's life and death. These lipids gained tremendous research …

Autophagy is a critical process in the regulation of muscle mass, function and integrity. The
molecular mechanisms regulating autophagy are complex and still partly understood. Here …

The intermediate filament protein desmin is an essential component of the extra-sarcomeric
cytoskeleton in muscle cells. This three-dimensional filamentous framework exerts central …

By virtue of their transformational power, the technologies at the core of the gene therapy
community have brought widespread public attention to the unique burden of previously …

Nuclear movements are important for multiple cellular functions, and are driven by polarized
forces generated by motor proteins and the cytoskeleton. During skeletal myofibre formation …

Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased
numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most …

Maintenance of the highly organized striated muscle tissue requires a cell-wide dynamic
network that through interactions with all vital cell structures, provides an effective …

Intermediate filament (IF) proteins are critical regulators in health and disease. The
discovery of hundreds of mutations in IF genes and posttranslational modifications has been …

The myotubularin family of phosphoinositide phosphatases includes several members
mutated in neuromuscular diseases or associated with metabolic syndrome, obesity, and …