ArticleDisease models & mechanisms2018
Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.
Article in Disease models & mechanisms, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- Review
- Altered Ca2+ responses and antioxidant properties in Friedreich's ataxia-like cerebellar astrocytes.Journal of cell science · 2025Article
- AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia.Molecular therapy. Methods & clinical development · 2024Article
- Identification of Safe and Effective Intravenous Dose of AAVrh.10hFXN to Treat the Cardiac Manifestations of Friedreich's Ataxia.Human gene therapy · 2023Article
- Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.Molecular genetics & genomic medicine · 2023Article
- Neuronal models of TDP-43 proteinopathy display reduced axonal translation, increased oxidative stress, and defective exocytosis.Frontiers in cellular neuroscience · 2023Article
- Perspectives on current models of Friedreich's ataxia.Frontiers in cell and developmental biology · 2022Article
- Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.Frontiers in neuroscience · 2022Review
- Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.Nucleic acids research · 2021Article
- Future Prospects of Gene Therapy for Friedreich's Ataxia.International journal of molecular sciences · 2021Review
- High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.Molecular therapy. Methods & clinical development · 2020Article
- Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.International journal of molecular sciences · 2020Article
- Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene Therapy.Human gene therapy · 2020Article
- Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.Disease models & mechanisms · 2020Article
- CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia.Molecular therapy. Methods & clinical development · 2020Article
- Analysis of Putative Epigenetic Regulatory Elements in theInternational journal of molecular sciences · 2020Review
- A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia.Scientific reports · 2019Article
- SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.Nucleic acids research · 2019Article
- Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes.Stem cell research · 2019Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The neurodegenerative disease Friedreich's ataxia is caused by lower than normal levels of frataxin, an important protein involved in iron-sulfur (Fe-S) cluster biogenesis. An important step in designing strategies to treat this disease is to understand whether increasing the frataxin levels by gene therapy would simply be beneficial or detrimental, because previous studies, mostly based on animal models, have reported conflicting results. Here, we have exploited an inducible model, which we developed using the CRISPR/Cas9 methodology, to study the effects of frataxin overexpression in human cells and monitor how the system recovers after overexpression. Using new tools, which range from high-throughput microscopy to
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