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Article

Frataxin deficiency and the pathology of Friedreich’s Ataxia across tissues

21 Feb 2025

Abstract excerpt

Friedreich’s Ataxia (FRDA) is a neurodegenerative disease that affects a variety of different organ systems. The disease is caused by GAA repeat expansions in intron 1 of the Frataxin gene (FXN), which results in a decrease in the expression of the FXN protein. FXN is needed for the biogenesis of iron-sulfur clusters (ISC) which are required by key metabolic processes in the mitochondria. Without ISCs those...

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PMID: 39981684
DOI: 10.1080/21688370.2025.2462357

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