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引用本文的文献
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Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application.
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Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency.
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Replication dependent and independent mechanisms of GAA repeat instability.
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An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia.
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Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
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DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
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Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable Reactivation.
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Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.
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SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.
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