Dysf

Summary

Gene Symbol: Dysf
Description: dysferlin
Alias: dysferlin
Species: rat
Products:     Dysf

Top Publications

  1. Matsuda C, Kameyama K, Suzuki A, Mishima W, Yamaji S, Okamoto H, et al. Affixin activates Rac1 via betaPIX in C2C12 myoblast. FEBS Lett. 2008;582:1189-96 pubmed publisher
    ..These results suggest that affixin is involved in reorganization of subsarcolemmal cytoskeletal actin by activation of Rac1 through alpha and betaPIXs in skeletal muscle. ..
  2. Fuson K, Rice A, Mahling R, Snow A, Nayak K, Shanbhogue P, et al. Alternate splicing of dysferlin C2A confers Ca²?-dependent and Ca²?-independent binding for membrane repair. Structure. 2014;22:104-15 pubmed publisher
    b>Dysferlin plays a critical role in the Ca²?-dependent repair of microlesions that occur in the muscle sarcolemma...
  3. Li L, Zhang H, Wang W, Hong Y, Wang J, Zhang S, et al. Comparative proteomics reveals abnormal binding of ATGL and dysferlin on lipid droplets from pressure overload-induced dysfunctional rat hearts. Sci Rep. 2016;6:19782 pubmed publisher
    ..The most noteworthy finding was the identification of the membrane resealing protein, dysferlin. An analysis of dysferlin truncation mutants indicated that its C2 domain was responsible for its LD ..
  4. Davis D, Doherty K, Delmonte A, McNally E. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J Biol Chem. 2002;277:22883-8 pubmed
    Mutations in dysferlin, a novel membrane protein of unknown function, lead to muscular dystrophy. Myoferlin is highly homologous to dysferlin and like dysferlin is a plasma membrane protein with six C2 domains highly expressed in muscle...
  5. Bansal D, Miyake K, Vogel S, Groh S, Chen C, Williamson R, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003;423:168-72 pubmed
    ..Mutations in dysferlin are linked to two clinically distinct muscle diseases, limb-girdle muscular dystrophy type 2B and Miyoshi ..
  6. Lennon N, Kho A, Bacskai B, Perlmutter S, Hyman B, Brown R. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem. 2003;278:50466-73 pubmed
    Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy...
  7. Hernandez Deviez D, Martin S, Laval S, Lo H, Cooper S, North K, et al. Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Hum Mol Genet. 2006;15:129-42 pubmed
    Mutations in the dysferlin (DYSF) and caveolin-3 (CAV3) genes are associated with muscle disease. Dysferlin is mislocalized, by an unknown mechanism, in muscle from patients with mutations in caveolin-3 (Cav-3)...
  8. Sher R, Aoyama C, Huebsch K, Ji S, Kerner J, Yang Y, et al. A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis. J Biol Chem. 2006;281:4938-48 pubmed
    ..The rmd mutant mouse offers the first demonstration of a defect in a phospholipid biosynthetic enzyme causing muscular dystrophy, representing a unique model for understanding mechanisms of muscle degeneration. ..
  9. Huang Y, Laval S, van Remoortere A, Baudier J, Benaud C, Anderson L, et al. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J. 2007;21:732-42 pubmed
    Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin is proposed to play a role in muscle membrane repair...

More Information

Publications14

  1. Klinge L, Harris J, Sewry C, Charlton R, Anderson L, Laval S, et al. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve. 2010;41:166-73 pubmed publisher
    Mutations in the dysferlin gene cause limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy...
  2. McDade J, Michele D. Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin. Hum Mol Genet. 2014;23:1677-86 pubmed publisher
    Mutations in the dysferlin gene resulting in dysferlin-deficiency lead to limb-girdle muscular dystrophy 2B and Myoshi myopathy in humans...
  3. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998;20:31-6 pubmed
    ..9-kb muscle cDNA, and we designate the corresponding protein 'dysferlin'...
  4. Evesson F, Peat R, Lek A, Brilot F, Lo H, Dale R, et al. Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. J Biol Chem. 2010;285:28529-39 pubmed publisher
    ..b>Dysferlin mutations cause inherited muscular dystrophy, and dysferlin also shows abnormal plasma membrane expression in ..
  5. Roche J, Ru L, O Neill A, Resneck W, Lovering R, Bloch R. Unmasking potential intracellular roles for dysferlin through improved immunolabeling methods. J Histochem Cytochem. 2011;59:964-75 pubmed publisher
    Mutations in the DYSF gene that severely reduce the levels of the protein dysferlin are implicated in muscle-wasting syndromes known as dysferlinopathies...