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Published in Scientific reports (21.07.2020)
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The citron homology domain as a scaffold for Rho1 signaling
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Published in Proceedings of the National Academy of Sciences - PNAS (28.09.2021)
Published in Proceedings of the National Academy of Sciences - PNAS (28.09.2021)
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An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal
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Published in Disease models & mechanisms (01.06.2023)
Published in Disease models & mechanisms (01.06.2023)
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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, Veronica M., Gundogdu, Mehmet, Bartual, Sergio G., Ferenbach, Andrew T., Stavridis, Marios, Õunap, Katrin, Pajusalu, Sander, Žordania, Riina, Wojcik, Monica H., Aalten, Daan M. F.
Published in FEBS letters (01.02.2020)
Published in FEBS letters (01.02.2020)
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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
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Published in Proceedings of the National Academy of Sciences - PNAS (23.07.2019)
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An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase
Pravata, Veronica M, Omelková, Michaela, Stavridis, Marios P, Desbiens, Chelsea M, Stephen, Hannah M, Lefeber, Dirk J, Gecz, Jozef, Gundogdu, Mehmet, Õunap, Katrin, Joss, Shelagh, Schwartz, Charles E, Wells, Lance, van Aalten, Daan M F
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
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O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
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Published in Nature communications (05.09.2022)
Published in Nature communications (05.09.2022)
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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
Pravata, Veronica M, Muha, Villo, Gundogdu, Mehmet, Ferenbach, Andrew T, Kakade, Poonam S, Vandadi, Vasudha, Wilmes, Ariane C, Borodkin, Vladimir S, Joss, Shelagh, Stavridis, Marios P, van Aalten, Daan M F
Published in Proceedings of the National Academy of Sciences - PNAS (23.07.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (23.07.2019)
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