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Deficiency of alpha-dystroglycan in muscle-eye-brain disease

Lookup NU author(s): Professor Volker Straub

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Abstract

Alpha-dystroglycan is a component of the dystrophin-glycoprotein-complex, which is the major mechanism of attachment between the cytoskeleton and the extracellular matrix. Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities and lissencephaly. We recently found that MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene. POMGnT1 is a glycosylation enzyme that participates in the synthesis of O-mannosyl glycan, a modification that is rare in mammals but is known to be a laminin-binding ligand of alpha-dystroglycan. Here we report a selective deficiency of alpha-dystroglycan in MEB patients. This finding suggests that alpha-dystroglycan is a potential target of POMGnT1 and that altered glycosylation of alpha-dystroglycan may play a critical role in the pathomechanism of MEB and some forms of muscular dystrophy.


Publication metadata

Author(s): Straub V; Kano H; Kobayashi K; Herrmann R; Tachikawa M; Manya H; Nishino I; Nonaka I; Talim B; Voit T; Topaloglu H; Endo T; Yoshikawa H; Toda T

Publication type: Article

Publication status: Published

Journal: Biochemical and Biophysical Research Communications

Year: 2002

Volume: 291

Issue: 5

Pages: 1283-1286

ISSN (print): 0006-291X

ISSN (electronic): 1090-2104

Publisher: Academic Press

URL: http://dx.doi.org/10.1006/bbrc.2002.6608

DOI: 10.1006/bbrc.2002.6608


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