Ontology highlight
ABSTRACT:
SUBMITTER: Stalnaker SH
PROVIDER: S-EPMC3122180 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
The Journal of biological chemistry 20110401 24
Dystroglycanopathies are a subset of congenital muscular dystrophies wherein α-dystroglycan (α-DG) is hypoglycosylated. α-DG is an extensively O-glycosylated extracellular matrix-binding protein and a key component of the dystrophin-glycoprotein complex. Previous studies have shown α-DG to be post-translationally modified by both O-GalNAc- and O-mannose-initiated glycan structures. Mutations in defined or putative glycosyltransferase genes involved in O-mannosylation are associated with a loss o ...[more]