Neuromuscular Disorders
Volume 18, Issue 12 , Pages 1002-1004 , December 2008

International workshop: Glycosylation defects in muscular dystrophies – Enhancing glycosylation to fight muscle diseases, 15–16 May, 2008, Charlotte, USA

  • Yiumo Michael Chan

      Affiliations

    • McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 704 355 6427; fax: +1 704 355 1679.
    • ,
  • Susan Brown

      Affiliations

    • Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Campus, UK
    • ,
  • Qi Lu

      Affiliations

    • McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA

References 

  1. Blake DJ, Esapa CT, Martin-Rendon E, McIlhinney RA. Glycosylation defects and muscular dystrophy. Adv Exp Med Biol. 2005;564:97–98
  2. Brown SC, Torelli S, Brockington M, et al. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am J Pathol. 2004;164(2):727–737
  3. Toda T, Chiyonobu T, Xiong H, et al. Fukutin and alpha-dystroglycanopathies. Acta Myol. 2005;24(2):60–63
  4. Matsumoto H, Hayashi YK, Kim DS, et al. Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan. Neuromuscul Disord. 2005;15(5):342–348
  5. Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394(6691):388–392
  6. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001;10(25):2851–2859
  7. Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 2001;1(5):717–724
  8. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome. Am J Hum Genet. 2002;71(5):1033–1043
  9. Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003;12(21):2853–2861
  10. van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker–Warburg syndrome. J Med Genet. 2005;42(12):907–912
  11. Sasaki T, Yamada H, Matsumura K, Shimizu T, Kobata A, Endo T. Detection of O-mannosyl glycans in rabbit skeletal muscle alpha-dystroglycan. Biochim Biophys Acta. 1998;1425(3):599–606
  12. Michele DE, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies. Nature. 2002;418(6896):417–422
  13. Martin PT. Dystroglycan glycosylation and its role in matrix binding in skeletal muscle. Glycobiology. 2003;13(8):55R–66R
  14. Grewal PK, Hewitt JE. Glycosylation defects: a new mechanism for muscular dystrophy?. Hum Mol Genet. 2003;12:R259–R264

PII: S0960-8966(08)00627-5

doi: 10.1016/j.nmd.2008.09.007

Neuromuscular Disorders
Volume 18, Issue 12 , Pages 1002-1004 , December 2008

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