ArticleScientific reports2020
Extra-mitochondrial mouse frataxin and its implications for mouse models of Friedreich's ataxia.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.Journal of neurology · 2023Trial
- Stable Isotope Labeling in Bacteria Enables Characterization and Quantification of Frataxin Protein in a Friedreich's Ataxia Zebrafish Model.Analytical chemistry · 2025Article
- Expression and processing of mature human frataxin after gene therapy in mice.Scientific reports · 2024Article
- Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.Journal of neurology · 2024Article
- AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia.Molecular therapy. Methods & clinical development · 2024Article
- Emerging antioxidant therapies in Friedreich's ataxia.Frontiers in pharmacology · 2024Review
- Expression and processing of mature human frataxin after gene therapy in mice.Research square · 2023Article
- Quantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy.Communications biology · 2023Article
- Mitochondrial dysfunction in neurodegenerative disorders: Potential therapeutic application of mitochondrial transfer to central nervous system-residing cells.Journal of translational medicine · 2023Review
- Cisplatin Dependent Secretion of Immunomodulatory High Mobility Group Box 1 (HMGB1) Protein from Lung Cancer Cells.Biomolecules · 2023Article
- Liquid Chromatography-Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich's Ataxia.Analytical chemistry · 2023Article
- Cardiovascular Research in Friedreich Ataxia: Unmet Needs and Opportunities.JACC. Basic to translational science · 2022Review
- Evolution of an Iron-Detoxifying Protein: Eukaryotic andInternational journal of molecular sciences · 2022Article
- Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.Frontiers in neuroscience · 2022Review
- Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions.Neuronal signaling · 2021Review
- Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.International journal of molecular sciences · 2020Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Mature frataxin is essential for the assembly of iron-sulfur cluster proteins including a number of mitochondrial enzymes. Reduced levels of mature frataxin (81-20) in human subjects caused by the genetic disease Friedreich's ataxia results in decreased mitochondrial function, neurodegeneration, and cardiomyopathy. Numerous studies of mitochondrial dysfunction have been conducted using mouse models of frataxin deficiency. However, mouse frataxin that is reduced in these models, is assumed to be mature frataxin (78-207) by analogy with human mature frataxin (81-210). Using immunoaffinity purification coupled with liquid chromatography-high resolution tandem mass spectrometry, we have discovered that mature frataxin in mouse heart (77%), brain (86%), and liver (47%) is predominantly a 129-amino acid truncated mature frataxin (79-207) in which the N-terminal lysine residue has been lost. Mature mouse frataxin (78-207) only contributes 7-15% to the total frataxin protein present in mouse tissues. We have also found that truncated mature frataxin (79-207) is present primarily in the cytosol of mouse liver; whereas, frataxin (78-207) is primarily present in the mitochondria. These findings, which provide support for the role of extra-mitochondrial frataxin in the etiology of Friedreich's ataxia, also have important implications for studies of mitochondrial dysfunction conducted in mouse models of frataxin deficiency.
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