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• W2146512185 abstract "Abnormally expanded DNA repeats are associated with several neurodegenerative diseases. In Friedreich's ataxia (FRDA), expanded GAA repeats in intron 1 of the frataxin gene (FXN) reduce FXN mRNA levels in averaged cell samples through a poorly understood mechanism. By visualizing FXN expression and nuclear localization in single cells, we show that GAA-expanded repeats decrease the number of FXN mRNA molecules, slow transcription, and increase FXN localization at the nuclear lamina (NL). Restoring histone acetylation reverses NL positioning. Expanded GAA-FXN loci in FRDA patient cells show increased NL localization with increased silencing of alleles and reduced transcription from alleles positioned peripherally. We also demonstrate inefficiencies in transcription initiation and elongation from the expanded GAA-FXN locus at single-cell resolution. We suggest that repressive epigenetic modifications at the expanded GAA-FXN locus may lead to NL relocation, where further repression may occur." @default.
• W2146512185 created "2016-06-24" @default.
• W2146512185 creator A5021904108 @default.
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• W2146512185 creator A5084816644 @default.
• W2146512185 date "2015-03-26" @default.
• W2146512185 modified "2023-10-01" @default.
• W2146512185 title "Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells" @default.
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• W2146512185 doi "https://doi.org/10.1093/hmg/ddv096" @default.
• W2146512185 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4498154" @default.
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• W2146512185 hasPublicationYear "2015" @default.
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