title: Abnormal glycosylation of dystroglycan in human genetic disease.
abstract: The dystroglycanopathies are a group of inherited muscular dystrophies that have a common underlying mechanism, hypoglycosylation of the extracellular receptor alpha-dystroglycan. Many of these disorders are also associated with defects in the central nervous system and the eye. Defects in alpha-dystroglycan may also play a role in cancer progression. This review discusses the six dystroglycanopathy genes identified so far, their known or proposed roles in dystroglycan glycosylation and their relevance to human disease, and some of animal models now available for the study of the dystroglycanopathies.
authors.affiliation: Institute of Genetics, School of Biology, Queen's Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK. jane.hewitt@nottingham.ac.uk
authors.forename: Jane E
authors.initials: JE
authors.lastname: Hewitt
mesh_terms: D000818:Animals; D004330:Drosophila; D049030:Dystroglycans / Q000378:metabolism*; D044127:Epigenesis, Genetic; D006031:Glycosylation; D006801:Humans; D007797:Laminin / Q000378:metabolism; D008364:Mannosyltransferases / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics; D023421:Models, Animal; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics / Q000378:metabolism; D009369:Neoplasms / Q000235:genetics; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics; D014777:Virus Diseases / Q000235:genetics; D015027:Zebrafish
chemical_list: C113587:FKTN protein, human; D007797:Laminin; D008565:Membrane Proteins; D011506:Proteins; D049030:Dystroglycans; C117674:LARGE1 protein, human; D008364:Mannosyltransferases; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase; C082696:protein O-mannosyltransferase; C443107:FKRP protein, human; D010430:Pentosyltransferases