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- W3025423749 abstract "Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an abnormally expanded Guanine-Adenine-Adenine (GAA) repeat sequence within the first intron of the frataxin gene (FXN). The molecular mechanisms associated with FRDA are still poorly understood and most studies on FXN gene regulation have been focused on the region around the minimal promoter and the region in which triplet expansion occurs. Nevertheless, since there could be more epigenetic changes involved in the reduced levels of FXN transcripts, the aim of this study was to obtain a more detailed view of the possible regulatory elements by analyzing data from ENCODE and Roadmap consortia databases. This bioinformatic analysis indicated new putative regulatory regions within the FXN genomic locus, including exons, introns, and upstream and downstream regions. Moreover, the region next to the end of intron 4 is of special interest, since the enhancer signals in FRDA-affected tissues are weak or absent in this region, whilst they are strong in the rest of the analyzed tissues. Therefore, these results suggest that there could be a direct relationship between the absence of enhancer sequences in this specific region and their predisposition to be affected in this pathology." @default.
- W3025423749 created "2020-05-21" @default.
- W3025423749 creator A5005858893 @default.
- W3025423749 creator A5028523194 @default.
- W3025423749 creator A5087630921 @default.
- W3025423749 date "2020-05-12" @default.
- W3025423749 modified "2023-10-18" @default.
- W3025423749 title "Analysis of Putative Epigenetic Regulatory Elements in the FXN Genomic Locus" @default.
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- W3025423749 cites W1986826633 @default.
- W3025423749 cites W1992846601 @default.
- W3025423749 cites W1995746317 @default.
- W3025423749 cites W1998805702 @default.
- W3025423749 cites W2005986419 @default.
- W3025423749 cites W2018363492 @default.
- W3025423749 cites W2024560618 @default.
- W3025423749 cites W2026353131 @default.
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- W3025423749 cites W2038235796 @default.
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- W3025423749 cites W2044375974 @default.
- W3025423749 cites W2044826047 @default.
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- W3025423749 doi "https://doi.org/10.3390/ijms21103410" @default.
- W3025423749 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7279236" @default.
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