Protein glycosylation in disease: new insights into the congenital muscular dystrophies

Martin-Rendon, Enca and Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 2003. Protein glycosylation in disease: new insights into the congenital muscular dystrophies. Trends in Pharmacological Sciences 24 (4) , pp. 178-183. 10.1016/S0165-6147(03)00050-6

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Abstract

Glycosylation is the most frequent modification of proteins and is important for many ligand–receptor interactions. Recently, defects in protein glycosylation have been linked to several forms of congenital muscular dystrophy that are frequently associated with brain abnormalities. Muscle-eye-brain disease and Walker-Warburg syndrome are caused by mutations in enzymes involved in O-mannosylation, whereas Fukuyama congenital muscular dystrophy and congenital muscular dystrophy type 1C are caused by mutations in genes that encode putative glycosyltransferases. The common factor in these disorders is defective processing and maturation of a protein called adystroglycan. This is thought to disrupt the link between a-dystroglycan and components of the extracellular matrix, and result in muscle disease and, in many cases, a neuronal-migration disorder.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Cell Press
ISSN:	0165-6147
Last Modified:	24 Oct 2022 11:44
URI:	https://orca.cardiff.ac.uk/id/eprint/49146

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