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Article

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.

Annals of neurology - 1 Oct 2014

Chutake Yogesh K, Lam Christina, Costello Whitney N, Anderson Michael, Bidichandani Sanjay I

Abstract excerpt

OBJECTIVE: Friedreich ataxia (FRDA) is caused by an expanded GAA triplet-repeat (GAA-TR) mutation in the FXN gene. Patients are typically homozygous for expanded alleles containing 100 to 1,300 triplets, and phenotypic severity is significantly correlated with the length of the shorter of the 2 expanded alleles. Patients have a severe deficiency of FXN transcript, which is predominantly caused by epigenetic...

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Topics

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Share to Alleles
Share to Epigenesis, Genetic
Share to Frataxin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Friedreich Ataxia

Share to Iron-Binding Proteins

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Share to Promoter Regions, Genetic

Share to Trinucleotide Repeat Expansion

Source

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Identifiers

PMID: 25112975
DOI: 10.1002/ana.24249
PMCID: PMC4191993

Genes

FXN
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.PMID 25112975Read ↗

Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.Semantic proximity Read ↗

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.Semantic proximity Read ↗

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

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.Semantic proximity Read ↗

Somatic instability of the expanded GAA repeats in Friedreich’s ataxiaSemantic proximity Read ↗

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

Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia.Semantic proximity Read ↗

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

CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS.Semantic proximity Read ↗

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.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 ↗

FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.Semantic proximity Read ↗

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