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• W2022146692 abstract "The recent identification of mutations in genes encoding demonstrated or putative glycosyltransferases has revealed a novel mechanism for congenital muscular dystrophy. Hypoglycosylated α-dystroglycan (α-DG) is commonly seen in Fukuyama-type congenital muscular dystrophy (FCMD), muscle–eye–brain disease (MEB), Walker–Warburg syndrome (WWS), and Largemyd mice. POMGnT1 and POMTs, the gene products responsible for MEB and WWS, respectively, synthesize unique O-mannose sugar chains on α-DG. The function of fukutin, the gene product responsible for FCMD, remains undetermined. Here we show that fukutin co-localizes with POMGnT1 in the Golgi apparatus. Direct interaction between fukutin and POMGnT1 was confirmed by co-immunoprecipitation and two-hybrid analyses. The transmembrane region of fukutin mediates its localization to the Golgi and participates in the interaction with POMGnT1. Y371C, a missense mutation found in FCMD, retains fukutin in the ER and also redirects POMGnT1 to the ER. Finally, we demonstrate reduced POMGnT1 enzymatic activity in transgenic knock-in mice carrying the retrotransposal insertion in the fukutin gene, the prevalent mutation in FCMD. From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity." @default.
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• W2022146692 date "2006-12-01" @default.
• W2022146692 modified "2023-09-29" @default.
• W2022146692 title "Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of α-dystroglycan" @default.
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• W2022146692 doi "https://doi.org/10.1016/j.bbrc.2006.09.129" @default.
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