Glycomarkers for muscular dystrophy.
During the last 10 years it has become apparent that a significant subset of inherited muscular dystrophy is caused by errors in the glycosylation of α-dystroglycan. Many of these dystrophies are also associated with abnormalities of the central nervous system. Dystroglycan has to be fully glycosylated in order bind to its ligands. To date, six genes have been shown to be essential for functional dystroglycan glycosylation and most, if not all, of these genes act in the formation of O-mannosyl glycans. Genetic heterogeneity indicates that other genes are involved in this pathway. Identification of these additional genes would increase our understanding of this specific and essential glycosylation pathway.
Centre for Genetics and Genomics, School of Biology, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK. jane.hewitt@nottingham.ac.uk
Jane E
JE
Hewitt
D015415:Biomarkers / Q000378:metabolism*; D049030:Dystroglycans / Q000737:chemistry / Q000378:metabolism*; D006031:Glycosylation; D006801:Humans; D007797:Laminin / Q000378:metabolism; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D011134:Polysaccharides / Q000737:chemistry / Q000378:metabolism*
D015415:Biomarkers; D007797:Laminin; D011134:Polysaccharides; D049030:Dystroglycans