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Dystroglycan: from biosynthesis to pathogenesis of human disease
Journal article   Open access   Peer reviewed

Dystroglycan: from biosynthesis to pathogenesis of human disease

Rita Barresi and Kevin P Campbell
Journal of cell science, Vol.119(Pt 2), pp.199-207
01/15/2006
DOI: 10.1242/jcs.02814
PMID: 16410545
url
https://doi.org/10.1242/jcs.02814View
Published (Version of record) Open Access

Abstract

Alpha- 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.
Molecular Weight Disease Humans Dystroglycans - metabolism Models, Molecular Glycosylation Animals Protein Isoforms - metabolism Protein Isoforms - chemistry Dystroglycans - chemistry Dystroglycans - genetics Protein Conformation Protein Isoforms - genetics

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