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The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix
O-linked β-N-acetyl-(D)-glucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential post-translational modification that is abundant in the brain. Recently, OGT mutations have been associated with intellectual disability, although it is not understood how they affect OGT...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cell Press
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967971/ https://www.ncbi.nlm.nih.gov/pubmed/29606577 http://dx.doi.org/10.1016/j.chembiol.2018.03.004 |