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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2019
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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 |
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