Ferenbach AT - Search Results

1

A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1.

Chen X, Raimi OG, Ferenbach AT, van Aalten DMF. Chen X, et al. Among authors: ferenbach at. FEBS Lett. 2021 Jan;595(1):110-122. doi: 10.1002/1873-3468.13968. Epub 2020 Nov 18. FEBS Lett. 2021. PMID: 33098688 Free PMC article.

2

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.

3

Dual functionality of O-GlcNAc transferase is required for Drosophila development.

Mariappa D, Zheng X, Schimpl M, Raimi O, Ferenbach AT, Müller HA, van Aalten DM. Mariappa D, et al. Among authors: ferenbach at. Open Biol. 2015 Dec;5(12):150234. doi: 10.1098/rsob.150234. Open Biol. 2015. PMID: 26674417 Free PMC article.

4

Nucleocytoplasmic human O-GlcNAc transferase is sufficient for O-GlcNAcylation of mitochondrial proteins.

Trapannone R, Mariappa D, Ferenbach AT, van Aalten DM. Trapannone R, et al. Among authors: ferenbach at. Biochem J. 2016 Jun 15;473(12):1693-702. doi: 10.1042/BCJ20160092. Epub 2016 Apr 5. Biochem J. 2016. PMID: 27048592 Free PMC article.

5

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

Willems AP, Gundogdu M, Kempers MJE, Giltay JC, Pfundt R, Elferink M, Loza BF, Fuijkschot J, Ferenbach AT, van Gassen KLI, van Aalten DMF, Lefeber DJ. Willems AP, et al. Among authors: ferenbach at. J Biol Chem. 2017 Jul 28;292(30):12621-12631. doi: 10.1074/jbc.M117.790097. Epub 2017 Jun 5. J Biol Chem. 2017. PMID: 28584052 Free PMC article.

6

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

7

Recognition of a glycosylation substrate by the O-GlcNAc transferase TPR repeats.

Rafie K, Raimi O, Ferenbach AT, Borodkin VS, Kapuria V, van Aalten DMF. Rafie K, et al. Among authors: ferenbach at. Open Biol. 2017 Jun;7(6):170078. doi: 10.1098/rsob.170078. Open Biol. 2017. PMID: 28659383 Free PMC article.

8

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.

9

The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix.

Gundogdu M, Llabrés S, Gorelik A, Ferenbach AT, Zachariae U, van Aalten DMF. Gundogdu M, et al. Among authors: ferenbach at. Cell Chem Biol. 2018 May 17;25(5):513-518.e4. doi: 10.1016/j.chembiol.2018.03.004. Epub 2018 Mar 29. Cell Chem Biol. 2018. PMID: 29606577 Free PMC article.

10

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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