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Dystroglycan: from biosynthesis to pathogenesis of human disease Barresi R; Campbell KPJ Cell Sci 2006[Jan]; 119 (Pt 2): 199-207Alpha- and beta-dystroglycan constitute a membrane-spanning complex that connects the extracellular matrix to the cytoskeleton. Although a structural role for dystroglycan had been identified, biochemical and genetic discoveries have recently highlighted the significance of posttranslational processing for dystroglycan function. Glycosylation is the crucial modification that modulates the function of dystroglycan as a receptor for extracellular binding partners. It has become clear that perturbation of dystroglycan glycosylation is the central event in the pathogenesis of several complex disorders, and recent advances suggest that glycosylation could be modulated to ameliorate the pathological features. Our increased understanding of the mechanisms of interaction of dystroglycan with its ligands has become an essential tool in deciphering the biological processes related to the human diseases in which the proteins are implicated.|*Disease[MESH]|Animals[MESH]|Dystroglycans/chemistry/genetics/*metabolism[MESH]|Glycosylation[MESH]|Humans[MESH]|Models, Molecular[MESH]|Molecular Weight[MESH]|Protein Conformation[MESH]|Protein Isoforms/chemistry/genetics/*metabolism[MESH] |
