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• W2158003231 endingPage "R264" @default.
• W2158003231 startingPage "R259" @default.
• W2158003231 abstract "Recently, post-translational modification of proteins has been defined as a new area of focus for muscular dystrophy research by the identification of a group of disease genes that encode known or putative glycosylation enzymes. Walker–Warburg Syndrome (WWS) and muscle–eye–brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively. Fukuyama muscular dystrophy (FCMD) is due to mutations in fukutin, a putative phospholigand transferase. Congenital muscular dystrophy type 1C and limb girdle muscular dystrophy type 2I are allelic, both being due to mutations in the gene-encoding fukutin-related protein (FKRP). Finally, the causative gene in the myodystrophy (myd) mouse is a putative bifunctional glycosyltransferase (Large). WWS, MEB, FCMD and the myd mouse are also associated with neuronal migration abnormalities (often type II lissencephaly) and ocular or retinal defects. A deficiency in post-translational modification of α-dystroglycan is a common feature of all these muscular dystrophies and is thought to involve O-glycosylation pathways. This abnormally modified α-dystroglycan is deficient in binding to extracellular matrix ligands, including laminin and agrin. Selective deletion of dystroglycan in the central nervous system (CNS) produces brain abnormalities with striking similarities to WWS, MEB, FCMD and the myd mouse. Thus, impaired dystroglycan function is strongly implicated in these diseases. However, it is unlikely that these five glycosylation enzymes only have a role in glycosylation of α-dystroglycan and it is important that other protein targets are identified." @default.
• W2158003231 created "2016-06-24" @default.
• W2158003231 creator A5015585560 @default.
• W2158003231 creator A5043174620 @default.
• W2158003231 date "2003-08-12" @default.
• W2158003231 modified "2023-10-18" @default.
• W2158003231 title "Glycosylation defects: a new mechanism for muscular dystrophy?" @default.
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• W2158003231 doi "https://doi.org/10.1093/hmg/ddg272" @default.
• W2158003231 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12925572" @default.
• W2158003231 hasPublicationYear "2003" @default.
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