Ontology highlight
ABSTRACT:
SUBMITTER: Pravata VM
PROVIDER: S-EPMC7042088 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Pravata Veronica M VM Gundogdu Mehmet M Bartual Sergio G SG Ferenbach Andrew T AT Stavridis Marios M Õunap Katrin K Pajusalu Sander S Žordania Riina R Wojcik Monica H MH van Aalten Daan M F DMF
FEBS letters 20191107 4
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 patient phenotypes is. Here, we report the discovery of a missense mutation in the catalytic domain of OGT in an XLID patient. X-ray crystallography reveals that this variant leads to structural rear ...[more]