Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Journal of Biological Chemistry

Volumn 292, Issue 30, 2017, Pages 12621-12631

  Willems, Anke P ^a,c   Gundogdu, Mehmet ^d   Kempers, Marlies J E ^b   Giltay, Jacques C ^e   Pfundt, Rolph ^b   Elferink, Martin ^e   Loza, Bettina F ^f   Fuijkschot, Joris ^b   Ferenbach, Andrew T ^d   Van Gassen, Koen L I ^e   Van Aalten, Daan M F ^d   Lefeber, Dirk J ^a,c  

^a RADBOUD UNIVERSITY   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f VIECURI MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CELL CULTURE; DEFECTS; FIBROBLASTS; GLYCOSYLATION; PROTEINS; SUBSTRATES;

CYTOSOLIC PROTEINS; HOST CELL FACTOR-1; INTELLECTUAL DISABILITY; N-ACETYLGLUCOSAMINE; POST-TRANSLATIONAL MODIFICATIONS; PROTEOLYTIC PROCESSING; SUBSTRATE RECOGNITION; TETRATRICOPEPTIDE REPEATS;

TRANSCRIPTION;

GLYCOSYLTRANSFERASE; MESSENGER RNA; N ACETYLGLUCOSAMINE; N ACETYLGLUCOSAMINE TRANSFERASE; TETRATRICOPEPTIDE REPEAT PROTEIN; TRANSCRIPTION FACTOR 7; UNCLASSIFIED DRUG; DNA; N ACETYLGLUCOSAMINYLTRANSFERASE; O-GLCNAC TRANSFERASE; RECOMBINANT PROTEIN;

ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DELAY; DOWN REGULATION; GENE; GENE MUTATION; HEMIZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; OGT GENE; PATHOGENICITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; PROTEIN UNFOLDING; RNA SPLICING; SKIN FIBROBLAST; SPLICING DEFECT; X CHROMOSOME LINKED DISORDER; CELL CULTURE; GENETICS; METABOLISM; MOLECULAR CLONING; MUTATION;

CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; DNA; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; RECOMBINANT PROTEINS;

EID: 85026324115     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M117.790097     Document Type: Article

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