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Article

Friedreich's ataxia: from disease mechanisms to therapeutic interventions.

Antioxidants & redox signaling - 1 Jan 2000

Lodi Raffaele, Tonon Caterina, Calabrese Vittorio, Schapira Anthony H V

Abstract excerpt

Friedreich's ataxia (FRDA) is the most common inherited ataxia. FRDA is an autosomal recessive degenerative disorder caused by a GAA triplet expansion or point mutations in the FRDA gene on chromosome 9q13. The FRDA gene product, frataxin, is a widely expressed mitochondrial protein that is severely reduced in FRDApatients. The function of frataxin has not been established yet. Studies of the yeast and animal...

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Identifiers

PMID: 16677089
DOI: 10.1089/ars.2006.8.438

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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