A dystroglycan mutation associated with limb-girdle muscular dystrophy.

Détails

Ressource 1Télécharger: BIB_75F27BF27F44.P001.pdf (766.29 [Ko])
Etat: Public
Version: Author's accepted manuscript
Document(s) secondaire(s)
Télécharger: 5_21388311.pdf (1235.91 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_75F27BF27F44
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
Périodique
New England Journal of Medicine
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2011
Peer-reviewed
Oui
Volume
364
Numéro
10
Pages
939-946
Langue
anglais
Résumé
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.
Mots-clé
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
Oui
Création de la notice
31/03/2011 13:33
Dernière modification de la notice
20/08/2019 15:33
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