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Lookup NU author(s): Professor Volker StraubORCiD
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Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein modification that is observed in a limited number of glycoproteins of brain, nerve, and skeletal muscle. Here we isolated a human cDNA for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), which participates in O-mannosyl glycan synthesis. We also identified six independent mutations of the POMGnT1 gene in six patients with MEB. Expression of most frequent mutation revealed a great loss of the enzymatic activity. These findings suggest that interference in O-mannosyl glycosylation is a new pathomechanism for muscular dystrophy as well as neuronal migration disorder.
Author(s): Straub V; Yoshida A; Kobayashi K; Manya H; Taniguchi K; Kano H; Mizuno M; Inazu T; Mitsuhashi H; Takahashi S; Takeuchi M; Herrmann R; Talim B; Voit T; Topaloglu H; Toda T; Endo T
Publication type: Article
Publication status: Published
Journal: Developmental Cell
ISSN (print): 1534-5807
ISSN (electronic): 1878-1551
Publisher: Cell Press
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