Eukaryotic cells have been confronted throughout their evolution with potentially lethal
plasma membrane injuries, including those caused by osmotic stress, by infection from …

The immune response to acute muscle damage is important for normal repair. However, in
chronic diseases such as many muscular dystrophies, the immune response can amplify …

Skeletal muscle is the largest organ of human body with several important roles in everyday
movement and metabolic homeostasis. The limited ability of small animal models of muscle …

Ferlins are a family of multiple C 2 domain proteins with emerging roles in vesicle fusion and
membrane trafficking. Ferlin mutations are associated with muscular dystrophy (dysferlin) …

Dysferlinopathies, most commonly limb girdle muscular dystrophy 2B and Miyoshi
myopathy, are degenerative myopathies caused by mutations in the DYSF gene encoding …

Muscular dystrophies are genetically diverse but share common phenotypic features of
muscle weakness, degeneration, and progressive decline in muscle function. Previous work …

Repair of plasma membrane tears is an important normal physiological process that enables
the cells to survive a variety of physiological and pathological membrane lesions. Dysferlin …

The loss of muscle strength with age has been studied from the perspective of a decline in
muscle mass and neuromuscular junction (NMJ) stability. A third potential factor is force …

Mutations in the dysferlin gene underlie a group of autosomal recessive muscle-wasting
disorders denoted as dysferlinopathies. Dysferlin has been shown to play roles in muscle …

Mutations in the dysferlin gene are the cause of Limb-girdle Muscular Dystrophy type 2B and
Miyoshi Myopathy. The dysferlin protein has been implicated in sarcolemmal resealing …