Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability - Willems, Anke P.; Gundogdu, Mehmet; Kempers, Marlies J.E.; Giltay, Jacques C.; Pfundt, Rolph; Elferink, Martin; Loza, Bettina F.; Fuijkschot, Joris; Ferenbach, Andrew T.; van Gassen, Koen L.I.; van Aalten, Daan M.F.; Lefeber, Dirk J. (The Journal of biological chemistry, 2017)
Keywords: Cells, Cultured; Child; Child, Preschool; Cloning, Molecular; Congenital Disorders of Glycosylation; DNA - genetics; DNA - metabolism; glycobiology; glycosyltransferase; Host Cell Factor 1 (HCF-1); Humans; Intellectual Disability - genetics; Intellectual Disability - metabolism; Male; metabolic disease; Molecular Bases of Disease; Mutation; N-Acetylglucosaminyltransferases - genetics; N-Acetylglucosaminyltransferases - metabolism; O-GlcNAcylation; O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT); Recombinant Proteins - genetics; Recombinant Proteins - metabolism; X-linked Intellectual Disability; Host Cell Factor 1 (HCF-1); Congenital Disorders of Glycosylation; glycosyltransferase; O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT); O-GlcNAcylation; X-linked Intellectual Disability; metabolic disease; glycobiology