DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

Abstract Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin. A lesser known extramitochondrial isoform of frataxin detected in erythrocytes, frataxin-E, is encoded via a...

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Bibliographic Details
Main Authors: Layne N. Rodden, Kaitlyn M. Gilliam, Christina Lam, Teerapat Rojsajjakul, Clementina Mesaros, Chiara Dionisi, Mark Pook, Massimo Pandolfo, David R. Lynch, Ian A. Blair, Sanjay I. Bidichandani
Format: Article
Language:English
Published: Nature Portfolio 2022-03-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-09002-5

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https://doi.org/10.1038/s41598-022-09002-5

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