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Pravata, Veronica

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20192019
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  • 40 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences
Catalytic Domain Medicine & Life Sciences
Host Factor 1 Protein Medicine & Life Sciences
Mutation Medicine & Life Sciences
X ray crystallography Chemical Compounds
Stem cells Chemical Compounds
Proteins Medicine & Life Sciences

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Research Output 2019 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., 18 Oct 2019, In : FEBS Letters.

Research output: Contribution to journalArticle

Missense Mutation
Intellectual Disability
Catalytic Domain
X ray crystallography
Stem cells
37 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., 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
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Intellectual Disability
Host Factor 1 Protein
Missense Mutation
Proteome
Catalytic Domain