Dysferlin is highly expressed in muscle, and is homologous to the ferlin family of proteins, which are thought to regulate membrane fusion across a wide variety of species and cell types. [24] Several lines of evidence suggest that dysferlin may be involved in membrane repair in muscle.

Mar 28, 2025 · DYSF (Dysferlin) is a Protein Coding gene. Diseases associated with DYSF include Miyoshi Muscular Dystrophy 1 and Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 . Among its related pathways are Cardiac …

Jun 26, 2014 · Our results provide the mechanism for dysferlin-mediated repair of skeletal muscle sarcolemma and identify ASM as a potential therapy for dysferlinopathy.

Jul 16, 2024 · Dysferlin stabilizes tubule-sarcoplasmic reticulum (SR) junctions at super-hub membrane complexes in junctophilin-2-overexpressing (JP2-OE) ventricular myocytes.

Since dysferlin shares high homology to otoferlin, it is reasonable to hypothesize that dysferlin might also work through SNAREs to regulate vesicle fusion in membrane repair. Recent work provides insights into the mechanism of synaptotagmin-potentiated membrane fusion.

Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule ...

The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain.

Dysferlin is a sarcolemmal protein that plays an important role in patching defects in skeletal membrane by regulating vesicle fusion with the sarcolemma. Mutations in the dysferlin gene can lead to a variety of clinical phenotypes.

Studies of dysferlin have focused on its role in the repair of the sarcolemma of skeletal muscle, but dysferlin’s association with calcium (Ca 2+) signaling proteins in the transverse (t-) tubules suggests additional roles. Here, we reveal that dysferlin is enriched in the t-tubule membrane of mature skeletal muscle fibers.

Apr 14, 2024 · Dysferlin is a 237 kDa membrane-associated protein characterised by multiple C2 domains with a diverse role in skeletal and cardiac muscle physiology. Mutations in DYSF are known to cause various types of human muscular dystrophies, known collectively as dysferlinopathies, with some patients developing cardiomyopathy.