TABLE 3.
OGT mutations associated with XLID and the impact on cellular function.
| Mutation | Cells | OGT and OGA levels | Global protein O-GlcNAcylation as measured by western blot analyses | Other cellular functions | References |
|---|---|---|---|---|---|
| L254F in the TPR domain | Affected lymphoblastoids | ↓ OGT protein levels and half-life, ↓OGA levels | Unchanged (CTD110.6 antibody) | Altered gene expression transcriptomes | Vaidyanathan et al. (2017) |
| R284P and a splicing defect in the TPR domain | Patient-derived fibroblasts | ↓ OGT and OGA protein levels | Unchanged (RL2 antibody) | Willems et al. (2017) | |
| A259T and E339G in the TPR domain | Edited human embryonic stem cell line | Unchanged (CTD110.6 antibody) | Changed gene expression profiles | Selvan et al. (2018) | |
| N567K in the catalytic domain | Edited human embryonic stem cells | ↓ OGA protein levels | Unchanged (RL2 antibody) | Perturbed differentiation and processing of Host Cell factor 1 | Pravata et al. (2019) |
| N567K in the catalytic domain | Edited Drosophila | ↓ in head lysates (RL2 antibody) | |||
| N648Y mutation in the catalytic domain | Edited human embryonic stem cells | ↓ (RL2 antibody) | Pravata et al. (2020a) |