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EMOND , Patrick

Last name: EMOND

First name: Patrick

November 14, 2023 (v1)

Publication

Metadata-only

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

Hounoum, Blandine Madji Bellon, Rachel Genin, Emmanuelle

Abstract 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...

Uploaded on: November 25, 2023
January 19, 2023 (v1)

Journal article

Metadata-only

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

Hounoum, Blandine Madji Bellon, Rachel Genin, Emmanuelle

Abstract 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...

Uploaded on: November 25, 2023