A dystroglycan mutation associated with limb-girdle muscular dystrophy.

Details

Ressource 1Download: BIB_75F27BF27F44.P001.pdf (766.29 [Ko])
State: Public
Version: Author's accepted manuscript
Secondary document(s)
Download: 5_21388311.pdf (1235.91 [Ko])
State: Public
Version: Final published version
Serval ID
serval:BIB_75F27BF27F44
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
Journal
New England Journal of Medicine
Author(s)
Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., Kanagawa M., Beltrán-Valero de Bernabé D., Gündeşli H., Willer T., Satz J.S., Crawford R.W., Burden S.J., Kunz S., Oldstone M.B., Accardi A., Talim B., Muntoni F., Topaloğlu H., Dinçer P., Campbell K.P.
ISSN
1533-4406 (Electronic)
ISSN-L
0028-4793
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
364
Number
10
Pages
939-946
Language
english
Abstract
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.
Keywords
Animals, Disease Models, Animal, Dystroglycans/genetics, Female, Humans, Mice, Muscular Dystrophies, Limb-Girdle/genetics, Mutation, Missense, Pedigree, Phenotype, Sequence Analysis, DNA
Pubmed
Web of science
Open Access
Yes
Create date
31/03/2011 13:33
Last modification date
20/08/2019 15:33
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