Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

International journal of molecular sciences - 13 Jul 2021

Nethisinghe Suran, Kesavan Maheswaran, Ging Heather, Labrum Robyn, Polke James M, Islam Saiful, Garcia-Moreno Hector, Callaghan Martina F, Cavalcanti Francesca, Pook Mark A, Giunti Paola

Abstract excerpt

Friedreich's ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that results in deficiency of the frataxin protein leading to mitochondrial dysfunction, oxidative stress and cell death. The GAA repeat tract in some cases may be impure with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age Factors
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Friedreich Ataxia

Share to Trinucleotide Repeat Expansion

Share to United Kingdom

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 34299126
DOI: 10.3390/ijms22147507
PMCID: PMC8307455

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.PMID 34299126Read ↗

Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very RareSemantic proximity Read ↗

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

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.Semantic proximity Read ↗

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.Semantic proximity Read ↗

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

Accurate and simple FXN-GAA repeats (Friedreich ataxia loci) estimation by long read targeted sequencingSemantic proximity Read ↗

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report.Semantic proximity Read ↗

Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?Semantic proximity Read ↗

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia.Semantic proximity Read ↗

Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.Semantic proximity Read ↗

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia.Semantic proximity Read ↗

Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onsetSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.