title: The dystrophin-glycoprotein complex in brain development and disease.
abstract: 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.
authors.affiliation: Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.
authors.forename: Adrian
authors.initials: A
authors.lastname: Waite
authors.forename: Susan C
authors.initials: SC
authors.lastname: Brown
authors.forename: Derek J
authors.initials: DJ
authors.lastname: Blake
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D001927:Brain Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D049028:Dystrophin-Associated Protein Complex / Q000235:genetics / Q000378:metabolism*; D006023:Glycoproteins / Q000235:genetics / Q000378:metabolism*; D006801:Humans
chemical_list: D049028:Dystrophin-Associated Protein Complex; D006023:Glycoproteins