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The dystrophin-glycoprotein complex in brain development and disease [Review]

Waite, Adrian James, Brown, Susan C. and Blake, Derek J. 2012. The dystrophin-glycoprotein complex in brain development and disease [Review]. Trends in Neurosciences 35 (8) , pp. 487-496. 10.1016/j.tins.2012.04.004

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In addition to muscle disease, defects in processing and assembly of the dystrophin-glycoprotein complex (DGC) are associated with a spectrum of brain abnormalities ranging from mild cognitive impairment (MCI) to neuronal migration disorders. In brain, the DGC is involved in the organisation of GABA(A) receptors (GABA(A)Rs) and aquaporin-4 (AQP4)-containing protein complexes in neurons and glia, respectively. During development, defects in the glycosylation of α-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. Furthermore, mutations in the gene encoding ɛ-sarcoglycan (SGCE) cause the neurogenic movement disorder myoclonus dystonia syndrome. In this review, we describe recent progress in defining distinct roles for the DGC in neurons and glia.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > R Medicine (General)
Publisher: Cell Press
ISSN: 0166-2236
Last Modified: 10 Mar 2020 02:34

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