Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and...

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Detalles Bibliográficos
Autores principales: Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J. E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L. I., van Aalten, Daan M. F., Lefeber, Dirk J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2017
Materias:
Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535036/
https://www.ncbi.nlm.nih.gov/pubmed/28584052
http://dx.doi.org/10.1074/jbc.M117.790097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535036/
https://www.ncbi.nlm.nih.gov/pubmed/28584052
http://dx.doi.org/10.1074/jbc.M117.790097

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