A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy  

Oleh:

Hara, Yuji ; Balci-Hayta, Burcu ; Yoshida-Moriguchi, Takako ; Kanagawa, Motoi

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 364 no. 10 (Mar. 2011), page 939-946.
Topik: Dystroglycan; Skeletal Muscle

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2011.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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 a-dystroglycan that is required for high-affinity binding to laminin.

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