The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

DYSF  -  dysferlin

Homo sapiens

Synonyms: Dysferlin, Dystrophy-associated fer-1-like protein, FER1L1, Fer-1-like protein 1, LGMD2B, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of DYSF


Psychiatry related information on DYSF


High impact information on DYSF


Chemical compound and disease context of DYSF


Biological context of DYSF

  • Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene [13].
  • CONCLUSIONS: The new R1905X DYSF founder mutation produced the 3 possible dysferlinopathy phenotypes without intrafamilial heterogeneity [1].
  • RESULTS: All the patients presented the R1905X mutation in the DYSF gene in homozygosity, and the haplotype analysis at the DYSF locus revealed that it was a novel and founder mutation [1].
  • Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus [14].
  • Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population [15].

Anatomical context of DYSF


Associations of DYSF with chemical compounds


Physical interactions of DYSF


Other interactions of DYSF


Analytical, diagnostic and therapeutic context of DYSF


  1. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Vilchez, J.J., Gallano, P., Gallardo, E., Lasa, A., Rojas-García, R., Freixas, A., De Luna, N., Calafell, F., Sevilla, T., Mayordomo, F., Baiget, M., Illa, I. Arch. Neurol. (2005) [Pubmed]
  2. Variable reduction of caveolin-3 in patients with LGMD2B/MM. Walter, M.C., Braun, C., Vorgerd, M., Poppe, M., Thirion, C., Schmidt, C., Schreiber, H., Knirsch, U.I., Brummer, D., Müller-Felber, W., Pongratz, D., Müller-Höcker, J., Huebner, A., Lochmüller, H. J. Neurol. (2003) [Pubmed]
  3. Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene. Cho, H.J., Sung, D.H., Kim, E.J., Yoon, C.H., Ki, C.S., Kim, J.W. J. Korean Med. Sci. (2006) [Pubmed]
  4. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Weiler, T., Bashir, R., Anderson, L.V., Davison, K., Moss, J.A., Britton, S., Nylen, E., Keers, S., Vafiadaki, E., Greenberg, C.R., Bushby, C.R., Wrogemann, K. Hum. Mol. Genet. (1999) [Pubmed]
  5. Dysferlin is a plasma membrane protein and is expressed early in human development. Anderson, L.V., Davison, K., Moss, J.A., Young, C., Cullen, M.J., Walsh, J., Johnson, M.A., Bashir, R., Britton, S., Keers, S., Argov, Z., Mahjneh, I., Fougerousse, F., Beckmann, J.S., Bushby, K.M. Hum. Mol. Genet. (1999) [Pubmed]
  6. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Liu, J., Aoki, M., Illa, I., Wu, C., Fardeau, M., Angelini, C., Serrano, C., Urtizberea, J.A., Hentati, F., Hamida, M.B., Bohlega, S., Culper, E.J., Amato, A.A., Bossie, K., Oeltjen, J., Bejaoui, K., McKenna-Yasek, D., Hosler, B.A., Schurr, E., Arahata, K., de Jong, P.J., Brown, R.H. Nat. Genet. (1998) [Pubmed]
  7. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Bashir, R., Britton, S., Strachan, T., Keers, S., Vafiadaki, E., Lako, M., Richard, I., Marchand, S., Bourg, N., Argov, Z., Sadeh, M., Mahjneh, I., Marconi, G., Passos-Bueno, M.R., Moreira, E.d.e. .S., Zatz, M., Beckmann, J.S., Bushby, K. Nat. Genet. (1998) [Pubmed]
  8. Dysferlin and the plasma membrane repair in muscular dystrophy. Bansal, D., Campbell, K.P. Trends Cell Biol. (2004) [Pubmed]
  9. Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy. Sinnreich, M., Therrien, C., Karpati, G. Neurology (2006) [Pubmed]
  10. Novel protein domains and repeats in Drosophila melanogaster: insights into structure, function, and evolution. Ponting, C.P., Mott, R., Bork, P., Copley, R.R. Genome Res. (2001) [Pubmed]
  11. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Gallardo, E., Rojas-García, R., de Luna, N., Pou, A., Brown, R.H., Illa, I. Neurology (2001) [Pubmed]
  12. Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding. Wenzel, K., Carl, M., Perrot, A., Zabojszcza, J., Assadi, M., Ebeling, M., Geier, C., Robinson, P.N., Kress, W., Osterziel, K.J., Spuler, S. Hum. Mutat. (2006) [Pubmed]
  13. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Illa, I., Serrano-Munuera, C., Gallardo, E., Lasa, A., Rojas-García, R., Palmer, J., Gallano, P., Baiget, M., Matsuda, C., Brown, R.H. Ann. Neurol. (2001) [Pubmed]
  14. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus. von Tell, D., Bruder, C.E., Anderson, L.V., Anvret, M., Ahlberg, G. Neurogenetics (2003) [Pubmed]
  15. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Cagliani, R., Fortunato, F., Giorda, R., Rodolico, C., Bonaglia, M.C., Sironi, M., D'Angelo, M.G., Prelle, A., Locatelli, F., Toscano, A., Bresolin, N., Comi, G.P. Neuromuscul. Disord. (2003) [Pubmed]
  16. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Matsuda, C., Hayashi, Y.K., Ogawa, M., Aoki, M., Murayama, K., Nishino, I., Nonaka, I., Arahata, K., Brown, R.H. Hum. Mol. Genet. (2001) [Pubmed]
  17. Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. Matsuda, C., Kameyama, K., Tagawa, K., Ogawa, M., Suzuki, A., Yamaji, S., Okamoto, H., Nishino, I., Hayashi, Y.K. J. Neuropathol. Exp. Neurol. (2005) [Pubmed]
  18. In vivo and in vitro dysferlin expression in human muscle satellite cells. De Luna, N., Gallardo, E., Illa, I. J. Neuropathol. Exp. Neurol. (2004) [Pubmed]
  19. Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. Oh, S.H., Kim, T.S., Choi, Y.C. Yonsei Med. J. (2004) [Pubmed]
  20. Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy. Ro, L.S., Lee-Chen, G.J., Lin, T.C., Wu, Y.R., Chen, C.M., Lin, C.Y., Chen, S.T. Arch. Neurol. (2004) [Pubmed]
  21. Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress. Ikezoe, K., Furuya, H., Ohyagi, Y., Osoegawa, M., Nishino, I., Nonaka, I., Kira, J. Acta Neuropathol. (2003) [Pubmed]
  22. Changes in dysferlin, proteins from dystrophin glycoprotein complex, costameres, and cytoskeleton in human soleus and vastus lateralis muscles after a long-term bedrest with or without exercise. Chopard, A., Arrighi, N., Carnino, A., Marini, J.F. FASEB J. (2005) [Pubmed]
  23. The third human FER-1-like protein is highly similar to dysferlin. Britton, S., Freeman, T., Vafiadaki, E., Keers, S., Harrison, R., Bushby, K., Bashir, R. Genomics (2000) [Pubmed]
  24. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Cagliani, R., Magri, F., Toscano, A., Merlini, L., Fortunato, F., Lamperti, C., Rodolico, C., Prelle, A., Sironi, M., Aguennouz, M., Ciscato, P., Uncini, A., Moggio, M., Bresolin, N., Comi, G.P. Hum. Mutat. (2005) [Pubmed]
  25. Emerin expression in tubular aggregates. Manta, P., Terzis, G., Papadimitriou, C., Kontou, C., Vassilopoulos, D. Acta Neuropathol. (2004) [Pubmed]
  26. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Fanin, M., Nascimbeni, A.C., Angelini, C. Neuromuscul. Disord. (2006) [Pubmed]
  27. Expression of myoferlin in skeletal muscles of patients with dysferlinopathy. Inoue, M., Wakayama, Y., Kojima, H., Shibuya, S., Jimi, T., Oniki, H., Nishino, I., Nonaka, I. Tohoku J. Exp. Med. (2006) [Pubmed]
  28. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Nguyen, K., Bassez, G., Bernard, R., Krahn, M., Labelle, V., Figarella-Branger, D., Pouget, J., Hammouda, e.l. .H., Béroud, C., Urtizberea, A., Eymard, B., Leturcq, F., Lévy, N. Hum. Mutat. (2005) [Pubmed]
  29. Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro". de Luna, N., Gallardo, E., Soriano, M., Dominguez-Perles, R., de la Torre, C., Rojas-García, R., García-Verdugo, J.M., Illa, I. J. Biol. Chem. (2006) [Pubmed]
  30. The muscle protein dysferlin accumulates in the Alzheimer brain. Galvin, J.E., Palamand, D., Strider, J., Milone, M., Pestronk, A. Acta Neuropathol. (2006) [Pubmed]
WikiGenes - Universities