Ontology highlight
ABSTRACT:
SUBMITTER: Buysse K
PROVIDER: S-EPMC3613162 | biostudies-literature | 2013 May
REPOSITORIES: biostudies-literature
Buysse Karen K Riemersma Moniek M Powell Gareth G van Reeuwijk Jeroen J Chitayat David D Roscioli Tony T Kamsteeg Erik-Jan EJ van den Elzen Christa C van Beusekom Ellen E Blaser Susan S Babul-Hirji Riyana R Halliday William W Wright Gavin J GJ Stemple Derek L DL Lin Yung-Yao YY Lefeber Dirk J DJ van Bokhoven Hans H
Human molecular genetics 20130128 9
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 group of congenital muscular dystrophies, commonly referred to as dystroglycanopathies. The most severe clinical form, Walker-Warburg syndrome ...[more]