The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix
Published in Cell Chemical Biology, 2018
Recommended citation: Gundogdu M., Llabrés S., Gorelik A., Ferenbach AT., Zachariae U, van Aalten DMF. (2018) Cell Chemical Biology, 25, 5, 513. https://www.sciencedirect.com/science/article/pii/S2451945618300837
Abstract:
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.
Recommended citation: Gundogdu M., Llabrés S., Gorelik A., Ferenbach AT., Zachariae U, van Aalten DMF. (2018) Cell Chemical Biology, 25, 5, 513.