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Gene Review

MYOT  -  myotilin

Homo sapiens

Synonyms: 57 kDa cytoskeletal protein, LGMD1, LGMD1A, MFM3, Myofibrillar titin-like Ig domains protein, ...
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Disease relevance of MYOT


High impact information on MYOT


Biological context of MYOT


Anatomical context of MYOT


Associations of MYOT with chemical compounds


Other interactions of MYOT


Analytical, diagnostic and therapeutic context of MYOT


  1. Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. van der Ven, P.F., Wiesner, S., Salmikangas, P., Auerbach, D., Himmel, M., Kempa, S., Hayess, K., Pacholsky, D., Taivainen, A., Schröder, R., Carpén, O., Fürst, D.O. J. Cell Biol. (2000) [Pubmed]
  2. Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods. Schröder, R., Reimann, J., Salmikangas, P., Clemen, C.S., Hayashi, Y.K., Nonaka, I., Arahata, K., Carpén, O. Neuromuscul. Disord. (2003) [Pubmed]
  3. Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin. Obermann, W.M., Gautel, M., Weber, K., Fürst, D.O. EMBO J. (1997) [Pubmed]
  4. myotilin Mutation found in second pedigree with LGMD1A. Hauser, M.A., Conde, C.B., Kowaljow, V., Zeppa, G., Taratuto, A.L., Torian, U.M., Vance, J., Pericak-Vance, M.A., Speer, M.C., Rosa, A.L. Am. J. Hum. Genet. (2002) [Pubmed]
  5. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Garvey, S.M., Miller, S.E., Claflin, D.R., Faulkner, J.A., Hauser, M.A. Hum. Mol. Genet. (2006) [Pubmed]
  6. Mutations in myotilin cause myofibrillar myopathy. Selcen, D., Engel, A.G. Neurology (2004) [Pubmed]
  7. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Salmikangas, P., van der Ven, P.F., Lalowski, M., Taivainen, A., Zhao, F., Suila, H., Schröder, R., Lappalainen, P., Fürst, D.O., Carpén, O. Hum. Mol. Genet. (2003) [Pubmed]
  8. Actin-organising properties of the muscular dystrophy protein myotilin. von Nandelstadh, P., Grönholm, M., Moza, M., Lamberg, A., Savilahti, H., Carpén, O. Exp. Cell Res. (2005) [Pubmed]
  9. TTID: A novel gene at 5q31 encoding a protein with titin-like features. Godley, L.A., Lai, F., Liu, J., Zhao, N., Le Beau, M.M. Genomics (1999) [Pubmed]
  10. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. Gontier, Y., Taivainen, A., Fontao, L., Sonnenberg, A., van der Flier, A., Carpen, O., Faulkner, G., Borradori, L. J. Cell. Sci. (2005) [Pubmed]
  11. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Salmikangas, P., Mykkänen, O.M., Grönholm, M., Heiska, L., Kere, J., Carpén, O. Hum. Mol. Genet. (1999) [Pubmed]
  12. A mutation in myotilin causes spheroid body myopathy. Foroud, T., Pankratz, N., Batchman, A.P., Pauciulo, M.W., Vidal, R., Miravalle, L., Goebel, H.H., Cushman, L.J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W.C. Neurology (2005) [Pubmed]
  13. Elevated vimentin expression in buccal mucosal fibroblasts by arecoline in vitro as a possible pathogenesis for oral submucous fibrosis. Chang, Y.C., Tsai, C.H., Tai, K.W., Yang, S.H., Chou, M.Y., Lii, C.K. Oral Oncol. (2002) [Pubmed]
  14. Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. Bönnemann, C.G., Thompson, T.G., van der Ven, P.F., Goebel, H.H., Warlo, I., Vollmers, B., Reimann, J., Herms, J., Gautel, M., Takada, F., Beggs, A.H., Fürst, D.O., Kunkel, L.M., Hanefeld, F., Schröder, R. J. Neurol. Sci. (2003) [Pubmed]
  15. The palladin/myotilin/myopalladin family of actin-associated scaffolds. Otey, C.A., Rachlin, A., Moza, M., Arneman, D., Carpen, O. Int. Rev. Cytol. (2005) [Pubmed]
  16. Sporadic late onset nemaline myopathy. Chahin, N., Selcen, D., Engel, A.G. Neurology (2005) [Pubmed]
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