The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix
Mehmet Gundogdu, Salomé Llabrés, Andrii Gorelik, Andrew T. Ferenbach, Ulrich Zachariae, Daan M.F. van Aalten
文献索引：10.1016/j.chembiol.2018.03.004
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摘要
O-linked β-N-acetyl-D-glucosamine (O-GlcNAc) transferase (OGT) regulates proteinO-GlcNAcylation, an essential post-translational modification that is abundant in the brain. Recently,OGTmutations 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.