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A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.
Pravata VM, Gundogdu M, Bartual SG, Ferenbach AT, Stavridis M, Õunap K, Pajusalu S, Žordania R, Wojcik MH, van Aalten DMF. Pravata VM, et al. Among authors: ferenbach at. FEBS Lett. 2020 Feb;594(4):717-727. doi: 10.1002/1873-3468.13640. Epub 2019 Nov 7. FEBS Lett. 2020. PMID: 31627256 Free PMC article.
A mutant O-GlcNAcase enriches Drosophila developmental regulators.
Selvan N, Williamson R, Mariappa D, Campbell DG, Gourlay R, Ferenbach AT, Aristotelous T, Hopkins-Navratilova I, Trost M, van Aalten DMF. Selvan N, et al. Among authors: ferenbach at. Nat Chem Biol. 2017 Aug;13(8):882-887. doi: 10.1038/nchembio.2404. Epub 2017 Jun 12. Nat Chem Biol. 2017. PMID: 28604694
Effects of hypo-O-GlcNAcylation on Drosophila development.
Mariappa D, Ferenbach AT, van Aalten DMF. Mariappa D, et al. Among authors: ferenbach at. J Biol Chem. 2018 May 11;293(19):7209-7221. doi: 10.1074/jbc.RA118.002580. Epub 2018 Mar 27. J Biol Chem. 2018. PMID: 29588363 Free PMC article.
Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.
Pravata VM, Muha V, Gundogdu M, Ferenbach AT, Kakade PS, Vandadi V, Wilmes AC, Borodkin VS, Joss S, Stavridis MP, van Aalten DMF. Pravata VM, et al. Among authors: ferenbach at. Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):14961-14970. doi: 10.1073/pnas.1900065116. Epub 2019 Jul 11. Proc Natl Acad Sci U S A. 2019. PMID: 31296563 Free PMC article.
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