Systematic mapping of O-GlcNAc transferase and O-GlcNAcase defines disease-associated variants
Jonah Kimi, Florian Malard, Stephanie Olivier-Van Stichelen · 2026
Read Systematic mapping of O-GlcNAc transferase and O-GlcNAcase defines disease-associated variants by Jonah Kimi, Florian Malard, Stephanie Olivier-Van Stichelen (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13264370.txt.
Description
Jonah Kimi, Florian Malard, and Stephanie Olivier-Van Stichelen map in 2026 the small changes found in two enzymes that add and remove a sugar tag on proteins. The tagging cycle touches many body processes and is linked to brain degeneration and cancer. For years the enzymes were thought so vital that any real change in them would be fatal.
Genetic screening then found living people with single letter changes in the adding enzyme, tied to an inherited intellectual disability. More families have since come to light. The team's map sorts which changes occur and which track with disease. A careful map tells clinics whether a new patient's variant is likely harmful or harmless. It also hints at how much slack these core enzymes truly have.
Catalog record
| CREATOR | Jonah Kimi, Florian Malard, Stephanie Olivier-Van Stichelen |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 59 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |