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
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
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 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
Role of O-Linked N-Acetylglucosamine Protein Modification in Cellular (Patho)Physiology.
Chatham JC et al.
Physiological Reviews, 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
O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability.
Konzman D et al.
Frontiers in Genetics, 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-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.
van Tol W et al.
Current Opinion in Structural Biology, 2019
Acutely elevated O-GlcNAcylation suppresses hippocampal activity by modulating both intrinsic and synaptic excitability factors.
Hwang H et al.
Scientific Reports, 2019
Critical observations that shaped our understanding of the function(s) of intracellular glycosylation (O-GlcNAc).
Zachara NE
Febs Letters, 2018
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
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.
Vaidyanathan K et al.
The Journal of Biological Chemistry, 2017
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.
Niranjan TS et al.
Plos One, 2015