Varaico: Literature-Extracted Genetic Variants

Gene:OGT
Variant:p.C921Y
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OGT

NM_181672.3:p.C921Y

Associated Papers

Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability.

Pravata VM et al.

Molecular & Cellular Proteomics : Mcp, 2025

Convergence on CaMK4: A Key Modulator of Autism-Associated Signaling Pathways in Neurons.

Kaiser J et al.

Biological Psychiatry, 2025

Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.

Yuan H et al.

Stem Cell Reports, 2025

39706180 (PubMed )
Supplement: mmc1.pdf

Genetic gradual reduction of OGT activity unveils the essential role of O-GlcNAc in the mouse embryo.

Formichetti S et al.

Plos Genetics, 2025

Rescuable sleep and synaptogenesis phenotypes in a Drosophila model of O-GlcNAc transferase intellectual disability.

Czajewski I et al.

Elife, 2024

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 O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal.

Omelková M et al.

Disease Models & Mechanisms, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."