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, S. Bannwarth, A. Lefevre, L. Fleuriol, D. Debayle, A.-S. Gay, A. Petit-Paitel, S. Lacas-Gervais, H. Blasco, P. Edmond, V. Paquis-Flucklinger, 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.
bioRxiv · Jan 19, 2023 · PreprintCell Biology