Cell BiologybioRxivPreprint
Multiomics study of CHCHD10S59L-related disease reveals energy metabolism downregulation: OXPHOS and beta-oxidation deficiencies associated with lipids alterations
B. Madji Hounoum, R. Bellon, E. C. Genin…·J.-E. RICCI
This study identifies metabolic and lipid alterations in CHCHD10S59L-related disease, showing OXPHOS and beta-oxidation deficiencies and suggesting L-acetylcarnitine as a potential therapeutic.
DOI 10.1101/2023.01.19.524672