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The neurobiology of the dystrophin-associated glycoprotein complex

Waite, Adrian James, Tinsley, Caroline L., Locke, Matthew and Blake, Derek J. 2009. The neurobiology of the dystrophin-associated glycoprotein complex. Annals of Medicine 41 (5) , pp. 344-359. 10.1080/07853890802668522

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While the function of dystrophin in muscle disease has been thoroughly investigated, dystrophin and associated proteins also have important roles in the central nervous system. Many patients with Duchenne and Becker muscular dystrophies (D/BMD) have cognitive impairment, learning disability, and an increased incidence of some neuropsychiatric disorders. Accordingly, dystrophin and members of the dystrophin-associated glycoprotein complex (DGC) are found in the brain where they participate in macromolecular assemblies that anchor receptors to specialized sites within the membrane. In neurons, dystrophin and the DGC participate in the postsynaptic clustering and stabilization of some inhibitory GABAergic synapses. During development, -dystroglycan functions as an extracellular matrix receptor controlling, amongst other things, neuronal migration in the developing cortex and cerebellum. Several types of congenital muscular dystrophy caused by impaired -dystroglycan glycosylation cause neuronal migration abnormalities and mental retardation. In glial cells, the DGC is involved in the organization of protein complexes that target water-channels to the plasma membrane. Finally, mutations in the gene encoding ε-sarcoglycan cause the neurogenic movement disorder, myoclonus-dystonia syndrome implicating εsarcoglycan in dopaminergic neurotransmission. In this review we describe the recent progress in defining the role of the DGC and associated proteins in the brain.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Dentistry
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Uncontrolled Keywords: dystonia, glycosylation, mental retardation, muscular dystrophy, neuronal migration
Publisher: Informa Plc.
ISSN: 0785-3890
Last Modified: 10 Mar 2020 02:33

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