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

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.

PloS one - 1 Jan 2014

Anjomani Virmouni Sara, Sandi Chiranjeevi, Al-Mahdawi Sahar, Pook Mark A

Abstract excerpt

BACKGROUND: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene. We have previously established and performed preliminary characterisation of several human FXN yeast artificial chromosome (YAC) transgenic FRDA mouse models containing GAA repeat expansions, Y47R (9 GAA repeats), YG8R (90 and 190 GAA repeats) and...

Read the complete abstract on PubMed

Topics

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

Share to Blood Glucose
Share to Chromosomes, Artificial, Yeast

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Frataxin

Share to Friedreich Ataxia

Share to Hand Strength

Share to Iron-Binding Proteins

Share to Rotarod Performance Test

Share to Transgenes

Source

Open in PubMed Open full text

Identifiers

PMID: 25198290
DOI: 10.1371/journal.pone.0107416
PMCID: PMC4157886

Genes

GAA
FXN

Variants

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.PMID 25198290Read ↗

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

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

A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia.Semantic proximity Read ↗

Glial cell activation precedes neurodegeneration in the cerebellar cortex of the YG8-800 murine model of Friedreich’s ataxiaSemantic proximity Read ↗

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.Semantic proximity Read ↗

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficitsSemantic proximity Read ↗

Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter.Semantic proximity Read ↗

Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.Semantic proximity Read ↗

Transgenic mouse models of neurodegenerative disease caused by CAG/polyglutamine expansions.Semantic proximity Read ↗

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.Semantic proximity Read ↗

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.Semantic proximity Read ↗

Drosophila melanogaster Models of Friedreich's Ataxia.Semantic proximity Read ↗

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