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Pravata, Veronica

Miss

  • 7 Citations
  • 2 h-Index
20192020

Research output per year

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Research Output

  • 7 Citations
  • 2 h-Index
  • 3 Article
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Article
2020

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., 20 Feb 2020, In : European Journal of Human Genetics. 9 p.

Research output: Contribution to journalArticle

Open Access
File
28 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., 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)
113 Downloads (Pure)