O-linked β-N-acetyl-D-glucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential post-translational modification that is abundant in the brain. Recently, OGT mutations have been associated with intellectual disability, although it is not understood how they affect OGT structure and function. Using a multi-disciplinary approach we show that the L254F OGT mutation leads to conformational changes of the tetratricopeptide repeats and reduced activity, revealing the molecular mechanisms contributing to pathogenesis.
Pubmed ID: 29606577 RIS Download
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View all literature mentionsThis polyclonal targets IgG
View all literature mentionsThis polyclonal targets IgG
View all literature mentionsThis polyclonal targets HSP90
View all literature mentionsThis polyclonal targets OGT
View all literature mentionsThis polyclonal targets HSP90
View all literature mentionsThis monoclonal targets O-Linked N-Acetylglucosamine
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