Journal article

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Joseph P Sarsero, Timothy P Holloway, Lingli Li, David I Finkelstein, Panos A Ioannou



Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin. We previously generated BAC-based transgenic mice containing an FXN-EGFP genomic reporter construct in which the EGFP gene is fused in-frame immediately following the final codon of exon 5a of the human FXN gene. These transgenic mice were mated with mice heterozygous for a knockout mutation of the murine Fxn gene, to generate mice homozygous for the Fxn knockout mutation and hemizygous o..

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Awarded by Muscular Dystrophy Association (USA)

Funding Acknowledgements

This work was supported by the Muscular Dystrophy Association (USA) (grants 3657, 3725), the Friedreich's Ataxia Research Alliance (USA), the Brockhoff Foundation (Australia), Seek A Miracle (USA) and the Victorian Government's Operational Infrastructure Support Program. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.