Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy
Valeria Jaramillo‐Martinez, Souad R. Sennoune, Elena B. Tikhonova, Andrey L. Karamyshev, Vadivel Ganapathy, Ina L. Urbatsch
The paper classifies molecular defects of six SLC13A5 mutations into two classes, revealing distinct mechanisms of impaired citrate transport and protein folding, with implications for targeted therapies.
Journal of Molecular Biology · Jan 1, 2024Peer-reviewedBiochemistry