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Multiomics study of <i> CHCHD10 <sup>S59L</sup> </i> -related disease reveals energy metabolism downregulation: OXPHOS and β-oxidation deficiencies associated with lipids alterations

2023-01-19

Abstract excerpt

Mutations in the coiled-coil-helix-coiled-coil-helix domain containing 10 ( CHCHD10 ) gene have been associated with a large clinical spectrum including myopathy, cardiomyopathy and amyotrophic lateral sclerosis (ALS). Herein, we analyzed the metabolic changes induced by the p.S59L CHCHD10 mutation to identify new therapeutic opportunities. Using metabolomic, lipidomic and proteomic analysis we observed a strong...

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Literature Corpus work
a4441cca-3d2b-5420-871c-a2bba8bd74f2
DOI
10.1101/2023.01.19.524672
Open publication

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Multiomics study of <i> CHCHD10 <sup>S59L</sup> </i> -related disease reveals energy metabolism downregulation: OXPHOS and β-oxidation deficiencies associated with lipids alterationsDOI 10.1101/2023.01.19.524672
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