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Article

Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia

13 Aug 2002

Abstract excerpt

BACKGROUND: Friedreich ataxia is a slowly progressive neurodegenerative disease caused by reduced expression of frataxin as a result of a GAA repeat expansion in the first intron of the FRDA gene. We report here the development of a sensitive cellular assay for frataxin expression from the intact FRDA locus that should facilitate the identification of potentially therapeutic pharmacological agents to treat...

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Identifiers

PMID: 12516053
DOI: 10.1002/jgm.320

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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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