Associated Papers
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma.
D'Alessio AM et al.
American Journal of Medical Genetics. Part A, 2026
Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability.
Pravata VM et al.
Molecular & Cellular Proteomics : Mcp, 2025
Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.
Yuan H et al.
Stem Cell Reports, 2025
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
Neurodevelopmental defects in a mouse model of O-GlcNAc transferase intellectual disability.
Authier F et al.
Disease Models & Mechanisms, 2024
An in-silico analysis of OGT gene association with diabetes mellitus.
Ayodele AO et al.
Bmc Research Notes, 2024
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal.
Omelková M et al.
Disease Models & Mechanisms, 2023
The O-GlcNAc cycling in neurodevelopment and associated diseases.
Wenzel DM et al.
Biochemical Society Transactions, 2022
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.
Pravata VM et al.
European Journal of Human Genetics : Ejhg, 2020
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability.
Pravata VM et al.
Febs Letters, 2020
O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability.
Konzman D et al.
Frontiers in Genetics, 2020
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