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Article

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

Molecular genetics and metabolism - 1 Jun 2024

Murray Marta, Davidson Lindsay, Ferenbach Andrew T, Lefeber Dirk, van Aalten Daan M F

Abstract excerpt

Pathogenic variants in the O-GlcNAc transferase gene (OGT) have been associated with a congenital disorder of glycosylation (OGT-CDG), presenting with intellectual disability which may be of 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 line together with isogenic control...

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Source

Identifiers

PMID: 38759397
DOI: 10.1016/j.ymgme.2024.108492

Genes

OGT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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