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

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.

Human genetics - 1 Jan 2007

Clark Rhonda M, De Biase Irene, Malykhina Anna P, Al-Mahdawi Sahar, Pook Mark, Bidichandani Sanjay I

Abstract excerpt

Friedreich ataxia (FRDA) is caused by homozygosity for FXN alleles containing an expanded GAA triplet-repeat (GAA-TR) sequence. Patients have progressive neurodegeneration of the dorsal root ganglia (DRG) and in later stages the cerebellum may be involved. The expanded GAA-TR sequence is unstable in somatic cells in vivo, and although the mechanism of instability remains unknown, we hypothesized that...

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 Cerebellum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frataxin

Share to Friedreich Ataxia

Share to Ganglia, Spinal

Share to Iron-Binding Proteins

Share to Trinucleotide Repeat Expansion

Share to Trinucleotide Repeats

Source

Identifiers

PMID: 17024371
DOI: 10.1007/s00439-006-0249-3

Genes

GAA
FXN

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.PMID 17024371Read ↗

Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patientsSemantic proximity Read ↗

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeatsSemantic proximity Read ↗

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

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.Semantic proximity Read ↗

Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice.Semantic proximity Read ↗

Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patientsSemantic proximity Read ↗

Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.Semantic proximity Read ↗

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.Semantic proximity Read ↗

Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice.Semantic proximity Read ↗

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.Semantic proximity Read ↗

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.Semantic proximity Read ↗

Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice.Semantic proximity Read ↗

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