ArticleScientific reports2022
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 15 citations in OpenAlex.
- Stable Isotope Labeling in Bacteria Enables Characterization and Quantification of Frataxin Protein in a Friedreich's Ataxia Zebrafish Model.Analytical chemistry · 2025Article
- Core biological principles and tools stemming from basic Arabidopsis research.The Plant cell · 2025Review
- Anatomical and functional analysis of the corticospinal tract in an FRDA mouse model.bioRxiv : the preprint server for biology · 2024Article
- The Regulation of the Disease-Causing GeneCells · 2024Review
- Expression and processing of mature human frataxin after gene therapy in mice.Scientific reports · 2024Article
- Expression and processing of mature human frataxin after gene therapy in mice.Research square · 2023Article
- Article
- Removal of the GAA repeat in the heart of a Friedreich's ataxia mouse model using CjCas9.Gene therapy · 2023Article
- Liquid Chromatography-Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich's Ataxia.Analytical chemistry · 2023Article
- Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.Brain communications · 2023Article
- Friedreich ataxia: clinical features and new developments.Neurodegenerative disease management · 2022Review
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
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 an alternate transcript (FXN-E) originating in intron 1 that lacks a mitochondrial targeting sequence. We show that FXN-E is deficient in FRDA, including in patient-derived cell lines, iPS-derived proprioceptive neurons, and tissues from a humanized mouse model. In a series of FRDA patients, deficiency of frataxin-E protein correlated with the length of the expanded GAA triplet-repeat, and with repeat-induced DNA hypermethylation that occurs in close proximity to the intronic origin of FXN-E. CRISPR-induced epimodification to mimic DNA hypermethylation seen in FRDA reproduced FXN-E transcriptional deficiency. Deficiency of frataxin E is a consequence of FRDA-specific epigenetic silencing, and therapeutic strategies may need to address this deficiency.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.