ArticlePloS one2012
Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 52 citations in OpenAlex.
- Frataxin mRNA isoforms in FRDA patients and normal subjects: effect of tocotrienol supplementation.BioMed research international · 2013Trial
- 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
- Mitochondrial Calcium Homeostasis in the Pathology and Therapeutic Application in Friedreich's Ataxia.Neuroscience bulletin · 2023Article
- Evolution of an Iron-Detoxifying Protein: Eukaryotic andInternational journal of molecular sciences · 2022Article
- DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.Scientific reports · 2022Article
- Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.Frontiers in neuroscience · 2022Review
- Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.Biophysics reports · 2021Article
- Future Prospects of Gene Therapy for Friedreich's Ataxia.International journal of molecular sciences · 2021Review
- Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.International journal of molecular sciences · 2020Article
- Analysis of Putative Epigenetic Regulatory Elements in theInternational journal of molecular sciences · 2020Review
- Evaluation of antibodies for western blot analysis of frataxin protein isoforms.Journal of immunological methods · 2019Article
- Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.Scientific reports · 2018Article
- Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?Pharmaceuticals (Basel, Switzerland) · 2018Review
- Iron regulatory protein deficiency compromises mitochondrial function in murine embryonic fibroblasts.Scientific reports · 2018Article
- Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.Analytical chemistry · 2018Article
- Iron Sulfur and Molybdenum Cofactor Enzymes Regulate theFrontiers in physiology · 2018Article
- Sulfur Modifications of the Wobble UBiomolecules · 2017Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 4 countries.
Funding
Abstract
Friedreich ataxia (FRDA) is an inherited neurodegenerative disease caused by frataxin (FXN) deficiency. The nervous system and heart are the most severely affected tissues. However, highly mitochondria-dependent tissues, such as kidney and liver, are not obviously affected, although the abundance of FXN is normally high in these tissues. In this study we have revealed two novel FXN isoforms (II and III), which are specifically expressed in affected cerebellum and heart tissues, respectively, and are functional in vitro and in vivo. Increasing the abundance of the heart-specific isoform III significantly increased the mitochondrial aconitase activity, while over-expression of the cerebellum-specific isoform II protected against oxidative damage of Fe-S cluster-containing aconitase. Further, we observed that the protein level of isoform III decreased in FRDA patient heart, while the mRNA level of isoform II decreased more in FRDA patient cerebellum compared to total FXN mRNA. Our novel findings are highly relevant to understanding the mechanism of tissue-specific pathology in FRDA.
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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.