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Article

Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.

The Journal of biological chemistry - 11 Feb 2011

Kumari Daman, Biacsi Rea Erika, Usdin Karen

Abstract excerpt

Expansion of a GAA · TTC repeat in the first intron of the frataxin (FXN) gene causes an mRNA deficit that results in Friedreich ataxia (FRDA). The region flanking the repeat on FRDA alleles is associated with more extensive DNA methylation than is seen on normal alleles and histone modifications typical of repressed genes. However, whether these changes are responsible for the mRNA deficit is controversial....

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Source

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Identifiers

PMID: 21127046
DOI: 10.1074/jbc.M110.194035
PMCID: PMC3039332

Genes

FXN
GAA

Provenance

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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Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.PMID 21127046Read ↗

Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.Semantic proximity Read ↗

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

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