Collagen VI

Collagen VI is a form of collagen primarily associated with the extracellular matrix of skeletal muscle.[1] Collagen VI molecules are made up of three alpha chains: α1(VI), α2(VI), and α3(VI).[2] It is associated with the genes COL6A1, COL6A2, COL6A3 and COL6A5.

Defects are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy.[3][4][5]

References

  1. ↑ Merlini L, Angelin A, Tiepolo T, et al. (April 2008). "Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies". Proc. Natl. Acad. Sci. U.S.A. 105 (13): 5225–9. doi:10.1073/pnas.0800962105. PMC 2278179. PMID 18362356.
  2. ↑ Pan, Te-Cheng; Zhang, Rui-Zhu; Arita, Machiko; Bogdanovich, Sasha; Adams, Sheila M.; Gara, Sudheer Kumar; Wagener, Raimund; Khurana, Tejvior S.; Birk, David E. (2014-04-11). "A Mouse Model for Dominant Collagen VI Disorders". The Journal of Biological Chemistry. 289 (15): 10293–10307. doi:10.1074/jbc.M114.549311. ISSN 0021-9258. PMC 4036154. PMID 24563484.
  3. ↑ Katrin Lampe, Anne; M Flanigan, Kevin; Mary Bushby, Katharine; Hicks, Debbie (2012-08-09). Collagen Type VI-Related Disorders. NBK1503. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in: |year= (help)
  4. ↑ Lampe AK, Bushby KM (September 2005). "Collagen VI related muscle disorders". J. Med. Genet. 42 (9): 673–85. doi:10.1136/jmg.2002.002311. PMC 1736127. PMID 16141002.
  5. ↑ Merlini L, Bernardi P (October 2008). "Therapy of collagen VI-related myopathies (Bethlem and Ullrich)". Neurotherapeutics. 5 (4): 613–8. doi:10.1016/j.nurt.2008.08.004. PMC 4514708. PMID 19019314.
  • Sparks, Susan; Quijano-Roy, Susana; Harper, Amy; Rutkowski, Anne; Gordon, Erynn; P Hoffman, Eric; Pegoraro, Elena (2012-08-23). Congenital Muscular Dystrophy Overview. NBK1291. In GeneReviews


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.