A Zebrafish Seizure Model of cblX Syndrome Reveals a Dose-Dependent Response to mTor Inhibition
Claudia B. Gil, David Paz, Briana E. Pinales, Victoria L. Castro, Claire E. Perucho, Annalise Gonzales, Giulio Francia, Sepiso K. Masenga, Antentor Hinton, Anita M. Quintana · 2025
Read A Zebrafish Seizure Model of cblX Syndrome Reveals a Dose-Dependent Response to mTor Inhibition by Claudia B. Gil, David Paz, Briana E. Pinales, Victoria L. Castro, Claire E. Perucho, Annalise Gonzales, Giulio Francia, Sepiso K. Masenga, Antentor Hinton, Anita M. Quintana (2025) 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-12821537.txt.
Description
Claudia Gil and co-authors build a zebrafish seizure model of cblX syndrome in this 2025 Europe PMC paper. The syndrome stems from mutations in the HCFC1 gene and can bring intellectual disability and epilepsy. In zebrafish, mutating the matching gene raises activity in the mTOR pathway, which is linked to seizures in other models.
Larvae were exposed to a seizure-inducing drug, with or without pretreatment by an mTOR inhibitor. The mutation alone did not change responses at low drug doses. The inhibitor reduced seizure response at one dose in mutants, but only within a narrow range; higher doses helped wild-type siblings yet not mutants. The model suits high-throughput dose and combination testing.
Catalog record
| CREATOR | Claudia B. Gil, David Paz, Briana E. Pinales, Victoria L. Castro, Claire E. Perucho, Annalise Gonzales, Giulio Francia, Sepiso K. Masenga, Antentor Hinton, Anita M. Quintana |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 39 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |