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
37907462 (PubMed )
Supplement: 41467_2023_42427_MOESM2_ESM.pdf
The O-GlcNAc cycling in neurodevelopment and associated diseases.
Wenzel DM et al.
Biochemical Society Transactions, 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
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
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
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