Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

O-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that has been implicated in multiple biological processes, including transcription. In humans, single genes encode enzymes for its attachment (O-GlcNAc transferase (OGT)) and removal (O-GlcNAcase (OGA)). An X-chro...

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Dades bibliogràfiques
Publicat a:J Biol Chem
Autors principals: Vaidyanathan, Krithika, Niranjan, Tejasvi, Selvan, Nithya, Teo, Chin Fen, May, Melanie, Patel, Sneha, Weatherly, Brent, Skinner, Cindy, Opitz, John, Carey, John, Viskochil, David, Gecz, Jozef, Shaw, Marie, Peng, Yunhui, Alexov, Emil, Wang, Tao, Schwartz, Charles, Wells, Lance
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2017
Matèries:
Glycobiology and Extracellular Matrices
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5448127/
https://ncbi.nlm.nih.gov/pubmed/28302723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.771030
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