BiochemistryJournal of Molecular BiologyPeer-reviewed
Molecular phenotypes segregate missense mutations in SLC13A5 Epilepsy
Valeria Jaramillo‐Martinez, Souad R. Sennoune, Elena B. Tikhonova…·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.
4 citations