dysferlin, dystrophy-associated fer-1-like 1, fer-1-like family member 1, fer-1-like protein 1, limb girdle muscular dystrophy 2B (autosomal recessive) GeneRIFs: Gene References Into Functions. Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.

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 ...

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.

Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data.

Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients or dysferlin-deficient mice point out its importance in membrane repair.

Mutations in dysferlin cause an inherited muscular dystrophy due to defective membrane repair. Three interacting partners of dysferlin are also implicated in membrane resealing: caveolin-3 (in limb girdle muscular dystrophy type 1C), annexin A1, …

Dysferlinopathies are a clinically heterogeneous group of diseases caused by mutations in the DYSF gene encoding the dysferlin protein. Dysferlin is mostly expressed in muscle tissues and is localized in the sarcolemma, where it performs its main function of resealing and maintaining of …

Feb 5, 2004 · Dysferlin is expressed in the plasma membrane of skeletal muscles and is involved in calcium-mediated membrane fusion events and plasma membrane repair [Bansal et al 2003, Lennon et al 2003]. Mechanism of disease causation. Loss-of-function variants result in very low levels of dysferlin expression in skeletal muscle membranes.

Jan 4, 2025 · Title: Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin. Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.

Dysferlin-deficiency significantly impacted the myofibre type composition of the EDL muscle, whereby the BLAJ EDL had a significantly larger proportion (+5.5%) of the type IIx MHC isoform and a smaller proportion (-5.5%) of the type IIb isoform (ps < 0.01), compared with WT.