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

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 f...

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Main Authors: Sarsero, Joseph P., Holloway, Timothy P., Li, Lingli, Finkelstein, David I., Ioannou, Panos A.
格式: Artigo
語言:Inglês
出版: Public Library of Science 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3965543/
https://ncbi.nlm.nih.gov/pubmed/24667739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0093307
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