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Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain

7 Dec 2023

Abstract excerpt

Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional silencing and reduced expression of frataxin. Frataxin participates in the mitochondrial assembly of FeS clusters, redox cofactors of the respiratory complexes I, II and III. To date it is still unclear how frataxin deficiency culminates in the...

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PMID: 38062036
DOI: 10.1038/s41419-023-06320-y

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