Ontology highlight
ABSTRACT:
SUBMITTER: Martin PT
PROVIDER: S-EPMC2855644 | biostudies-literature | 2007 Jun
REPOSITORIES: biostudies-literature
Current molecular medicine 20070601 4
A number of forms of congenital muscular dystrophy (CMD) have been identified that involve defects in the glycosylation of dystroglycan with O-mannosyl-linked glycans. There are at least six genes that can affect this type of glycosylation, and defects in these genes give rise to disorders that have many aspects of muscle and brain pathology in common. Overexpression of one gene implicated in CMD, LARGE, was recently shown to increase dystroglycan glycosylation and restore its function in cells ...[more]