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Article

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

Human molecular genetics - 15 Jun 2015

Silva Ana M, Brown Jill M, Buckle Veronica J, Wade-Martins Richard, Lufino Michele M P

Abstract excerpt

Abnormally expanded DNA repeats are associated with several neurodegenerative diseases. In Friedreich's ataxia (FRDA), expanded GAA repeats in intron 1 of the frataxin gene (FXN) reduce FXN mRNA levels in averaged cell samples through a poorly understood mechanism. By visualizing FXN expression and nuclear localization in single cells, we show that GAA-expanded repeats decrease the number of FXN mRNA molecules,...

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Share to Frataxin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron-Binding Proteins

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Source

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Identifiers

PMID: 25814655
DOI: 10.1093/hmg/ddv096
PMCID: PMC4498154

Genes

FXN
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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