STIM1 GoF Mutants: Genotype–Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum
Lara Atzgerstorfer, Magdalena Prantl, Andrea Waldhauser, Isabella Derler, Marc Fahrner · 2026
Read STIM1 GoF Mutants: Genotype–Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum by Lara Atzgerstorfer, Magdalena Prantl, Andrea Waldhauser, Isabella Derler, Marc Fahrner (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-13204625.txt.
Description
Lara Atzgerstorfer and co-authors review gene changes in a calcium sensor in a 2026 paper. The sensor, called STIM1, opens the door for calcium to enter cells. Broken copies that stay switched on cause three named syndromes that overlap a lot. The authors argue the three may be one disease spectrum rather than separate illnesses.
The sensor holds itself off through several built-in brakes. Disease changes snap those brakes in unlike places, so some cells flood with calcium while others do not. Many changes sit in the part that grips calcium or in a nearby coil. The review maps each change to its symptoms, which helps doctors read gene reports and group patients for care.
Catalog record
| CREATOR | Lara Atzgerstorfer, Magdalena Prantl, Andrea Waldhauser, Isabella Derler, Marc Fahrner |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 46 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |