Characterization of a COQ8A-ataxia mouse model with E548K single-site mutation: distinct and comparable findings relative to a loss-of-function mutation
Débora Farina Gonçalves, Natacha Broyer, Maïté Carre-Pierrat, Emmanuelle Sarzi, Laurence Reutenauer, Hélène M. Puccio
This study characterizes a COQ8A-ataxia mouse model with a E548K mutation, finding no significant motor or cognitive impairments despite biochemical changes similar to a knockout model.
bioRxiv · Apr 23, 2025 · PreprintCell Biology