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
Cryo-EM structure of human O-GlcNAcylation enzyme pair OGT-OGA complex.
Lu P et al.
Nature Communications, 2023
The O-GlcNAc cycling in neurodevelopment and associated diseases.
Wenzel DM et al.
Biochemical Society Transactions, 2022
Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila.
Fenckova M et al.
Plos Genetics, 2022
Cryo-EM structure provides insights into the dimer arrangement of the O-linked β-N-acetylglucosamine transferase OGT.
Meek RW et al.
Nature Communications, 2021
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
Disease related single point mutations alter the global dynamics of a tetratricopeptide (TPR) α-solenoid domain.
Llabrés S et al.
Journal of Structural Biology, 2020
Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability.
Pravata VM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
Selvan N et al.
The Journal of Biological Chemistry, 2018
The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix.
Gundogdu M et al.
Cell Chemical Biology, 2018
Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.
Willems AP et al.
The Journal of Biological Chemistry, 2017
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Bouazzi H et al.
Clinical Case Reports, 2015