A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

X‐linked intellectual disabilities (XLID) are common developmental disorders. The enzyme O‐GlcNAc transferase encoded by OGT, a recently discovered XLID gene, attaches O‐GlcNAc to nuclear and cytoplasmic proteins. As few missense mutations have been described, it is unclear what the aetiology of the...

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發表在:FEBS Lett
Main Authors: Pravata, Veronica M., Gundogdu, Mehmet, Bartual, Sergio G., Ferenbach, Andrew T., Stavridis, Marios, Õunap, Katrin, Pajusalu, Sander, Žordania, Riina, Wojcik, Monica H., van Aalten, Daan M. F.
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
主題:
Research Letters
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042088/
https://ncbi.nlm.nih.gov/pubmed/31627256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/1873-3468.13640
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