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Sgcb  -  sarcoglycan, beta (dystrophin-associated...

Mus musculus

Synonyms: 43 kDa dystrophin-associated glycoprotein, 43DAG, 43kDa, AI747103, AI844814, ...
 
 
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Disease relevance of Sgcb

 

High impact information on Sgcb

  • Further biochemical characterization suggested the presence of a distinct epsilon-sarcoglycan complex in skeletal muscle that was disrupted in Sgcb-null mice [1].
  • We found that beta-SG appears to play an initiating role and its association with delta-SG is essential for the proper localization of the sarcoglycan complex to the cell membrane [3].
  • We have also provided evidence that glycosylation-defective mutations in beta-SG and a common mutation in gamma-SG (C283Y) disrupt sarcoglycan-complex formation [3].
  • In dystrophin deficient cardiac muscle, utrophin and beta-sarcoglycan were observed in intercalated disks and at the sarcolemma of each cardiocyte [4].
 

Biological context of Sgcb

References

  1. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Durbeej, M., Cohn, R.D., Hrstka, R.F., Moore, S.A., Allamand, V., Davidson, B.L., Williamson, R.A., Campbell, K.P. Mol. Cell (2000) [Pubmed]
  2. Delivery of alpha- and beta-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity. Dressman, D., Araishi, K., Imamura, M., Sasaoka, T., Liu, L.A., Engvall, E., Hoffman, E.P. Hum. Gene Ther. (2002) [Pubmed]
  3. Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. Shi, W., Chen, Z., Schottenfeld, J., Stahl, R.C., Kunkel, L.M., Chan, Y.M. Muscle Nerve (2004) [Pubmed]
  4. Utrophin and dystrophin-associated glycoproteins in normal and dystrophin deficient cardiac muscle. Rivier, F., Robert, A., Royuela, M., Hugon, G., Bonet-Kerrache, A., Mornet, D. J. Muscle Res. Cell. Motil. (1999) [Pubmed]
  5. Sarcoglycans in muscular dystrophy. Hack, A.A., Groh, M.E., McNally, E.M. Microsc. Res. Tech. (2000) [Pubmed]
 
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