Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Abstract

Several known or putative glycosyltransferases are required for the synthesis of laminin-binding glycans on alpha-dystroglycan (αDG), including POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP, ISPD and GTDC2. Mutations in these glycosyltransferase genes result in defective αDG glycosylation and reduced ligand binding by αDG causing a clinically heterogeneous… (More)
DOI: 10.1093/hmg/ddt021

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@inproceedings{Buysse2013MissenseMI, title={Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome}, author={Karen Buysse and Moniek Riemersma and Gareth Powell and Jeroen van Reeuwijk and David A. Chitayat and Tony Roscioli and Erik-Jan Kamsteeg and Christa van den Elzen and Ellen van Beusekom and Susan Blaser and Riyana Babul-Hirji and W. C. Halliday and Gavin J. Wright and Derek L. Stemple and Yung-Yao Lin and Dirk Lefeber and H van Bokhoven}, booktitle={Human molecular genetics}, year={2013} }