Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2

Abstract excerpt

BACKGROUND: Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN. Augmentation of frataxin expression levels in affected Friedreich ataxia patient tissues might substantially slow disease progression. METHODOLOGY/PRINCIPAL FINDINGS: We utilized bioinformatic...

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