van Aalten, Daan

Professor

20012020

Research output per year

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Projects

Research Output

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. & van Aalten, D., 1 Jun 2020, In : European Journal of Human Genetics. 28, p. 706-714 9 p.

Research output: Contribution to journalArticle

Open Access
File
  • 36 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., 26 Jun 2020, In : Journal of Biological Chemistry. 295, 26, p. 8636-8646 12 p.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 54 Downloads (Pure)

    Targeting a critical step in fungal hexosamine biosynthesis

    Lockhart, D., Stanley, M., Raimi, O., Robinson, D., Boldovjakova, D., Squair, D., Ferenbach, A., Fang, W. & van Aalten, D., 27 Apr 2020, In : Journal of Biological Chemistry.

    Research output: Contribution to journalArticle

  • 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., 7 Nov 2019, In : FEBS Letters.

    Research output: Contribution to journalArticle

  • 2 Citations (Scopus)

    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., 23 Jul 2019, In : Proceedings of the National Academy of Sciences. 116, 30, p. 14961-14970 10 p.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 5 Citations (Scopus)
    119 Downloads (Pure)

    Press / Media

    Breakthrough in understanding role of enzyme in disease

    Daan M. F. Van Aalten

    29/10/12

    1 item of Media coverage

    Press/Media: Research