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

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.

Neurogenetics - 1 Oct 2001

Pook M A, Al-Mahdawi S, Carroll C J, Cossée M, Puccio H, Lawrence L, Clark P, Lowrie M B, Bradley J L, Cooper J M, Koenig M, Chamberlain S

Abstract excerpt

We have generated and characterised transgenic mice that contain the entire Friedreich's ataxia gene (FRDA) within a human YAC clone of 370 kb. In an effort to overcome the embryonic lethality of homozygous Frda knockout mice and to study the behaviour of human frataxin in a mouse cellular environment, we bred the FRDA YAC transgene onto the null mouse background. Phenotypically normal offspring that express only...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Artificial, Yeast
Share to Frataxin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Friedreich Ataxia

Share to Genes, Lethal

Share to Homozygote

Share to Iron-Binding Proteins

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Transgenes

Source

Identifiers

PMID: 11714098
DOI: 10.1007/s100480100118

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

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.PMID 11714098Read ↗

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

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.Semantic proximity Read ↗

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

Overexpression of Human and Fly Frataxins in Drosophila Provokes Deleterious Effects at Biochemical, Physiological and Developmental LevelsSemantic proximity Read ↗

High levels of frataxin overexpression leads to mitochondrial and cardiac toxicity in mouse modelsSemantic proximity Read ↗

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich AtaxiaSemantic proximity Read ↗

Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxiaSemantic proximity Read ↗

Pathophysiogical and therapeutic progress in Friedreich ataxia.Semantic proximity Read ↗

Biochemical alterations precede neurobehavioral deficits in a novel mouse model of Friedreich ataxiaSemantic proximity Read ↗

Recent advances in the molecular pathogenesis of Friedreich ataxia.Semantic proximity Read ↗

Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.Semantic proximity Read ↗

Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector.Semantic proximity Read ↗

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