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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

O-GlcNAc transferase (OGT) is an X-linked gene product that is essential for normal development of the vertebrate embryo. It catalyses the O-GlcNAc posttranslational modification of nucleocytoplasmic proteins and proteolytic maturation of the transcriptional coregulator Host cell factor 1 (HCF1). Re...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6660750/
https://www.ncbi.nlm.nih.gov/pubmed/31296563
http://dx.doi.org/10.1073/pnas.1900065116