Research output per year
Research output per year
- 35 results
Search results
-
2025
Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants
Yuan, H., Mitchell, C. W., Ferenbach, A. T., Feresin, A., Benke, P. J., Tan, Q. K. & van Aalten, D., 14 Jan 2025, In: Stem Cell Reports. 20, 1, 13 p., 102380.Research output: Contribution to journal › Article › peer-review
Open AccessFile5 Downloads (Pure) -
2024
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability
Authier, F., Ondruskova, N., Ferenbach, A., McNeilly, A. & van Aalten, D. M. F. (Lead / Corresponding author), 25 Apr 2024, In: DMM Disease Models and Mechanisms. 17, 4, 9 p., dmm050671.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)73 Downloads (Pure) -
Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase associated with intellectual disability
Murray, M., Davidson, L., Ferenbach, A. T., Lefeber, D. & van Aalten, D. M. F. (Lead / Corresponding author), Jun 2024, In: Molecular Genetics and Metabolism. 142, 2, 11 p., 108492.Research output: Contribution to journal › Review article › peer-review
Open AccessFile2 Citations (Scopus)70 Downloads (Pure) -
Rescuable sleep and synaptogenesis phenotypes in a Drosophila model of O-GlcNAc transferase intellectual disability
Czajewski, I., Swain, B., Xu, J., McDowall, L., Ferenbach, A. T. & van Aalten, D. M. (Lead / Corresponding author), 13 Nov 2024, In: eLife. 13, 27 p., e90376.Research output: Contribution to journal › Article › peer-review
Open AccessFile3 Downloads (Pure) -
2023
Exploiting O-GlcNAc transferase promiscuity to dissect site-specific O-GlcNAcylation
Mitchell, C., Galan Bartual, S., Ferenbach, A. T., Scavenius, C. & van Aalten, D. M. F. (Lead / Corresponding author), Dec 2023, In: Glycobiology. 33, 12, p. 1172-1181 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile2 Citations (Scopus)16 Downloads (Pure) -
Protein O-GlcNAcylation homeostasis regulates facultative heterochromatin to fine-tune sog-Dpp signaling during Drosophila early embryogenesis
Zhang, Y., Yu, H., Wang, D., Lei, X., Meng, Y., Zhang, N., Chen, F., Lv, L., Pan, Q., Qin, H., Zhang, Z., van Aalten, D. M. F. (Lead / Corresponding author) & Yuan, K. (Lead / Corresponding author), Dec 2023, In: Journal of Genetics and Genomics. 50, 12, p. 948-959 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile3 Citations (Scopus)77 Downloads (Pure) -
The role of O-GlcNAcylation in development
Czajewski, I. & van Aalten, D. M. F. (Lead / Corresponding author), Mar 2023, In: Development. 150, 6, 10 p., dev201370.Research output: Contribution to journal › Article › peer-review
Open AccessFile7 Citations (Scopus)131 Downloads (Pure) -
2022
Bioinformatic prediction of putative conveyers of O-GlcNAc Transferase intellectual disability
Mitchell, C. W., Czajewski, I. & van Aalten, D. M. F. (Lead / Corresponding author), Sept 2022, In: Journal of Biological Chemistry. 298, 9, p. 1-13 13 p., 102276.Research output: Contribution to journal › Article › peer-review
Open AccessFile6 Citations (Scopus)136 Downloads (Pure) -
Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila
Fenckova, M. (Lead / Corresponding author), Muha, V., Mariappa, D., Catinozzi, M., Czajewski, I., Blok, L. E. R., Ferenbach, A., Storkebaum, E., Schenck, A. & van Aalten, D. (Lead / Corresponding author), 2 May 2022, In: PLoS Genetics. 18, 5, 28 p., e1010159.Research output: Contribution to journal › Article › peer-review
Open AccessFile10 Citations (Scopus)147 Downloads (Pure) -
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
Soria, L. R. (Lead / Corresponding author), Makris, G., D'Alessio, A. M., De Angelis, A., Boffa, I., Pravata, V. M., Rüfenacht, V., Attanasio, S., Nusco, E., Arena, P., Ferenbach, A. T., Paris, D., Cuomo, P., Motta, A., Nitzahn, M., Lipshutz, G. S., Martínez-Pizarro, A., Richard, E., Desviat, L. R. & Häberle, J. & 2 others, , 5 Sept 2022, In: Nature Communications. 13, 14 p., 5212.Research output: Contribution to journal › Article › peer-review
Open AccessFile11 Citations (Scopus)97 Downloads (Pure) -
2021
A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1
Chen, X., Raimi, O., Ferenbach, A. & van Aalten, D. (Lead / Corresponding author), Jan 2021, In: FEBS Letters. 595, 1, p. 110-122 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile4 Citations (Scopus)98 Downloads (Pure) -
Loss of O-GlcNAcase catalytic activity leads to defects in mouse embryogenesis
Muha, V., Authier, F., Szoke-Kovacs, Z., Johnson, S., Gallagher, J., McNeilly, A., McCrimmon, R., Teboul, L. & van Aalten, D. (Lead / Corresponding author), 2021, In: Journal of Biological Chemistry. 296, 15 p., 100439.Research output: Contribution to journal › Article › peer-review
Open AccessFile32 Citations (Scopus)142 Downloads (Pure) -
2020
A mechanism-inspired UDP-N-acetylglucosamine pyrophosphorylase inhibitor
Raimi, O., Hurtado-Guerrero, R., Borodkin, V., Ferenbach, A., Urbaniak, M., Ferguson, M. & van Aalten, D. (Lead / Corresponding author), 1 Apr 2020, In: RSC Chemical Biology. 1, p. 13-25 13 p.Research output: Contribution to journal › Article › peer-review
18 Citations (Scopus) -
An intellectual disability syndrome with single nucleotide variants in O-GlcNAc Transferase
Pravata, V., Omelkova, M., Stavridis, M., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., Gécz, J., Gundogdu, M., Õunap, K., Joss, S., Schwartz, C. E., Wells, L. (Lead / Corresponding author) & van Aalten, D. (Lead / Corresponding author), 1 Jun 2020, In: European Journal of Human Genetics. 28, 6, p. 706-714 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile42 Citations (Scopus)173 Downloads (Pure) -
Native detection of protein O-GlcNAcylation by gel electrophoresis
Fu, C. & van Aalten, D. M. F. (Lead / Corresponding author), 7 Nov 2020, In: Analyst. 145, 21, p. 6826-6830 5 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile5 Citations (Scopus)75 Downloads (Pure) -
O-GlcNAcase contributes to cognitive function in Drosophila
Muha, V., Fenckova, M., Ferenbach, A., Catinozzi, M., Eidhof, I., Storkebaum, E., Schenck, A. & van Aalten, D. (Lead / Corresponding author), 26 Jun 2020, In: Journal of Biological Chemistry. 295, 26, p. 8636-8646 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile16 Citations (Scopus)131 Downloads (Pure) -
Tools for functional dissection of site-specific O-GlcNAcylation
Gorelik, A. & van Aalten, D. (Lead / Corresponding author), 1 Aug 2020, In: RSC Chemical Biology. 1, 3, p. 98-109 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile22 Citations (Scopus)138 Downloads (Pure) -
2019
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability
Pravata, V. M., Gundogdu, M., Bartual, S. G., Ferenbach, A. T., Stavridis, M., Õunap, K., Pajusalu, S., Žordania, R., Wojcik, M. H. & van Aalten, D. M. F. (Lead / Corresponding author), 7 Nov 2019, In: FEBS Letters. 594, 4, p. 717-727 11 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile33 Citations (Scopus)103 Downloads (Pure) -
A mouse model for functional dissection of TAB1 O-GlcNAcylation
Authier, F., Muha, V. & van Aalten, D. M. F. (Lead / Corresponding author), 27 Aug 2019, In: Wellcome Open Research. 4, 16 p., 128.Research output: Contribution to journal › Article › peer-review
Open AccessFile57 Downloads (Pure) -
Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
Pravata, V., Muha, V., Gundogdu, M., Ferenbach, A., Kakade, P., Vandadi, V., Wilmes, A. C., Borodkin, V., Joss, S., Stavridis, M. & van Aalten, D. (Lead / Corresponding author), 23 Jul 2019, In: Proceedings of the National Academy of Sciences. 116, 30, p. 14961-14970 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile53 Citations (Scopus)281 Downloads (Pure) -
Genetic recoding to dissect the roles of site-specific protein O-GlcNAcylation
Gorelik, A., Galan Bartual, S., Borodkin, V., Varghese, J., Ferenbach, A. & van Aalten, D. (Lead / Corresponding author), Nov 2019, In: Nature Structural & Molecular Biology. 26, 11, p. 1071-1077 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile51 Citations (Scopus)182 Downloads (Pure) -
Loss of CRMP2 O-GlcNAcylation leads to reduced novel object recognition performance in mice
Muha, V., Williamson, R., Hills, R., McNeilly, A., McWilliams, T. G., Alonso, J., Schimpl, M., Leney, A. C., Heck, A. J. R., Sutherland, C., Read, K., McCrimmon, R., Brooks, S. P. & van Aalten, D. (Lead / Corresponding author), 27 Nov 2019, In: Open Biology. 9, 11, p. 1-15 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile14 Citations (Scopus)150 Downloads (Pure) -
2018
Effects of hypo O-GlcNAcylation on Drosophila development
Mariappa, D. N., Ferenbach, A. & van Aalten, D. M. F. (Lead / Corresponding author), 11 May 2018, In: Journal of Biological Chemistry. 293, 19, p. 7209-7221 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile17 Citations (Scopus)199 Downloads (Pure) -
O-GlcNAcase Fragment Discovery with Fluorescence Polarimetry
Borodkin, V. S. (Lead / Corresponding author), Rafie, K., Selvan, N., Aristotelous, T., Navratilova, I., Ferenbach, A. T. & Van Aalten, D. M. F. (Lead / Corresponding author), 18 May 2018, In: ACS Chemical Biology. 13, 5, p. 1353-1360 8 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile9 Citations (Scopus)298 Downloads (Pure) -
The conserved threonine-rich region of the HCF-1PRO repeat activates promiscuous OGT: UDP-GlcNAc glycosylation and proteolysis activities
Kapuria, V., Röhrig, U. F., Waridel, P., Lammers, F., Borodkin, V. S., van Aalten, D. M. F., Zoete, V. & Herr, W. (Lead / Corresponding author), 16 Nov 2018, In: Journal of Biological Chemistry. 293, 46, p. 17754-17768 15 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)212 Downloads (Pure) -
The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix
Gundogdu, M., Llabres, S., Gorelik, A., Ferenbach, A., Zachariae, U. & Van Aalten, D. (Lead / Corresponding author), 17 May 2018, In: Cell Chemical Biology. 25, 5, p. 513-518.e4 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile29 Citations (Scopus)214 Downloads (Pure) -
UDP-GlcNAc Analogues as Inhibitors of O-GlcNAc Transferase (OGT): Spectroscopic, Computational, and Biological Studies
Ghirardello, M., Perrone, D., Chinaglia, N., Sádaba, D., Delso, I., Tejero, T., Marchesi, E., Fogagnolo, M., Rafie, K., van Aalten, D. M. F. & Merino, P., 17 May 2018, In: Chemistry: a European Journal. 24, 28, p. 7264-7272 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile10 Citations (Scopus)254 Downloads (Pure) -
2017
A mutant O-GlcNAcase enriches Drosophila developmental regulators
Selvan, N., Williamson, R., Mariappa, D., Campbell, D. G., Gourlay, R., Ferenbach, A. T., Aristotelous, T., Hopkins-Navratilova, I., Trost, M. & van Aalten, D. M. F. (Lead / Corresponding author), Aug 2017, In: Nature Chemical Biology. 13, 8, p. 882-887 8 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile54 Citations (Scopus)258 Downloads (Pure) -
Direct Monitoring of Protein O-GlcNAcylation by High-Resolution Native Mass Spectrometry
Leney, A. C., Rafie, K., Van Aalten, D. M. F. & Heck, A. J. R. (Lead / Corresponding author), 18 Aug 2017, In: ACS Chemical Biology. 12, 8, p. 2078-2084 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile22 Citations (Scopus)184 Downloads (Pure) -
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability
Willems, A. P., Gundogdu, M., Kempers, M. J. E., Giltay, J. C., Pfundt, R., Elferink, M., Loza, B. F., Fuijkschot, J., Ferenbach, A. T., van Gassen, K. L. I., van Aalten, D. M. F. & Lefeber, D. J. (Lead / Corresponding author), 28 Jul 2017, In: Journal of Biological Chemistry. 292, 30, p. 12621-12631 11 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile67 Citations (Scopus)166 Downloads (Pure) -
Recognition of a glycosylation substrate by the O-GlcNAc transferase TPR repeats
Rafie, K., Raimi, O., Ferenbach, A. T., Borodkin, V. S., Kapuria, V. & van Aalten, D. M. F. (Lead / Corresponding author), 28 Jun 2017, In: Open Biology. 7, p. 1-9 9 p., 70078.Research output: Contribution to journal › Article › peer-review
Open AccessFile43 Citations (Scopus)250 Downloads (Pure) -
Structure of PINK1 and mechanisms of Parkinson's disease associated mutations
Kumar, A., Tamjar, J., Waddell, A. D., Woodroof, H. I., Raimi, O. G., Shaw, A. M., Peggie, M., Muqit, M. M. K. (Lead / Corresponding author) & van Aalten, D. M. F. (Lead / Corresponding author), 9 Nov 2017, In: eLife. 6, p. 1-16 16 p., e29985.Research output: Contribution to journal › Article › peer-review
Open AccessFile75 Citations (Scopus)314 Downloads (Pure) -
2016
Glucose and glutamine fuel protein O-GlcNAcylation to control T cell self-renewal and malignancy
Swamy, M., Pathak, S., Grzes, K. M., Damerow, S., Sinclair, L. V., van Aalten, D. M. F. & Cantrell, D. A. (Lead / Corresponding author), Jun 2016, In: Nature Immunology. 17, 6, p. 712-720 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile280 Citations (Scopus)289 Downloads (Pure) -
Nucleocytoplasmic human O-GlcNAc transferase is sufficient for O-GlcNAcylation of mitochondrial proteins
Trapannone, R., Mariappa, D., Ferenbach, A. T. & van Aalten, D. M. F. (Lead / Corresponding author), 10 Jun 2016, In: Biochemical Journal. 473, 12, p. 1693-1702 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile49 Citations (Scopus)228 Downloads (Pure) -
Proteolysis of HCF-1 by Ser/Thr glycosylation-incompetent O-GlcNAc transferase: UDP-GlcNAc complexes
Kapuria, V., Röhrig, U. F., Bhuiyan, T., Borodkin, V. S., van Aalten, D. M. F., Zoete, V. & Herr, W. (Lead / Corresponding author), 15 Apr 2016, In: Genes and Development. 30, 8, p. 960-972 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile17 Citations (Scopus)201 Downloads (Pure)