Article

Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase intellectual disability

2023-09-21

Abstract excerpt

Most intellectual disabilities are caused by monogenic variation. Mutations in the O-GlcNAc transferase ( OGT ) gene have recently been linked to a novel congenital disorder of glycosylation (OGT-CDG), involving symptoms of possible neuroectodermal origin. To test the hypothesis that pathology is linked to defects in differentiation during early embryogenesis, we developed an OGT-CDG induced pluripotent stem cell...

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Literature Corpus work: cad814ee-7a9e-5fd4-ab8d-2f9e5554a5b3
DOI: 10.1101/2023.09.18.558285

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