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Article

Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.

PloS one - 1 Jan 2013

Bandiera Simonetta, Cartault François, Jannot Anne-Sophie, Hatem Elie, Girard Muriel, Rifai Laila, Loiseau Clemence, Munnich Arnold, Lyonnet Stanislas, Henrion-Caude Alexandra

Abstract excerpt

Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription thereby reducing expression of the protein. However, genotype-phenotype correlation is imperfect, and the influence of other gene regions of the frataxin gene is...

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Source

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Identifiers

PMID: 23382970
DOI: 10.1371/journal.pone.0054791
PMCID: PMC3559822

Genes

FXN
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.PMID 23382970Read ↗

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.Semantic proximity Read ↗

miR-886-3p levels are elevated in Friedreich ataxia.Semantic proximity Read ↗

Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2Semantic proximity Read ↗

Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus.Semantic proximity Read ↗

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.Semantic proximity Read ↗

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patientsSemantic proximity Read ↗

<i>FXN</i> methylation predicts expression and clinical outcome in Friedreich ataxiaSemantic proximity Read ↗

The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.Semantic proximity Read ↗

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