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A dystroglycan mutation associated with limb-girdle muscular dystrophy.

http://www.ncbi.nlm.nih.gov/pubmed/21388311

Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192→Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse model harboring this mutation recapitulates the immunohistochemical and neuromuscular abnormalities observed in the patient. In vitro and in vivo studies showed that the mutation impairs the receptor function of dystroglycan in skeletal muscle and brain by inhibiting the post-translational modification, mediated by the glycosyltransferase LARGE, of the phosphorylated O-mannosyl glycans on α-dystroglycan that is required for high-affinity binding to laminin.

Pubmed ID: 21388311 RIS Download

Mesh terms: Animals | Disease Models, Animal | Dystroglycans | Female | Humans | Mice | Muscular Dystrophies, Limb-Girdle | Mutation, Missense | Pedigree | Phenotype | Sequence Analysis, DNA

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Associated grants

  • Agency: NINDS NIH HHS, Id: 1U54NS053672
  • Agency: NIAID NIH HHS, Id: AI45927
  • Agency: Medical Research Council, Id: G0601943
  • Agency: NIDDK NIH HHS, Id: P30 DK 54759
  • Agency: NIDDK NIH HHS, Id: P30 DK054759
  • Agency: NIDDK NIH HHS, Id: P30 DK054759-11
  • Agency: NIAID NIH HHS, Id: R01 AI009484
  • Agency: NIAID NIH HHS, Id: R01 AI045927
  • Agency: NIAID NIH HHS, Id: R01 AI045927-10
  • Agency: NIDDK NIH HHS, Id: R01 DK051315
  • Agency: NIGMS NIH HHS, Id: R01 GM085232
  • Agency: NINDS NIH HHS, Id: U54 NS053672
  • Agency: NINDS NIH HHS, Id: U54 NS053672-07
  • Agency: Howard Hughes Medical Institute, Id:

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