ArticleDisease models & mechanisms2013
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Article in Disease models & mechanisms, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 97 papers.
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Who cites it
97 citing papers in PubMed, 148 citations in OpenAlex.
- Epigenetic therapy for Friedreich ataxia.Annals of neurology · 2014Trial
- Chemical modulation of Miro1 alleviates cell-type-specific vulnerabilities in Friedreich's ataxia.Cell chemical biology · 2026Article
- Myeloid cell replacement induces intercellular mitochondrial transfer and restores metabolism in a mouse model of mitochondrial disease.Nature communications · 2026Article
- Heart-Specific Spinal and Vagal Afferents: Transcriptomic Signatures and Optogenetically Modulated Functional Coupling With Cardiomyocytes.Comprehensive Physiology · 2026Article
- Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model.Cell death & disease · 2026Article
- Therapeutic activity of a hematopoietic stem cell-delivered cell-penetrating frataxin in Friedreich's ataxia models.Cell reports. Medicine · 2026Article
- Human pluripotent stem cell models of Friedreich's ataxia: innovations, considerations, and future perspectives.Stem cell research & therapy · 2026Review
- Human Induced Pluripotent Stem Cells in Rare Neurological Disorders: Opportunities and Challenges for Disease Modeling and Drug Discovery.Stem cells international · 2026Review
- Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich's ataxia: insights from in vitro models.Redox report : communications in free radical research · 2025Article
- Inhibition of Rho-Associated Kinases ROCK1 and ROCK2 as a Therapeutic Strategy to Reactivate the RepressedThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.Neurology. Genetics · 2025Article
- Targeted genetic therapies for inherited disorders that affect both cardiac and skeletal muscle.Experimental physiology · 2024Review
- Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses.Frontiers in cellular neuroscience · 2024Review
- Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons.Frontiers in pharmacology · 2024Article
- Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.Cell death & disease · 2023Article
- Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application.Translational neurodegeneration · 2023Review
- Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response.Disease models & mechanisms · 2023Article
- How can we use stem cell-derived cardiomyocytes to understand the involvement of energetic metabolism in alterations of cardiac function?Frontiers in molecular medicine · 2023Review
- 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
- Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.Molecular genetics & genomic medicine · 2023Article
37 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Friedreich's ataxia (FRDA) is a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy. FRDA is due to expanded GAA repeats within the first intron of the gene encoding frataxin, a conserved mitochondrial protein involved in iron-sulphur cluster biosynthesis. This mutation leads to partial gene silencing and substantial reduction of the frataxin level. To overcome limitations of current cellular models of FRDA, we derived induced pluripotent stem cells (iPSCs) from two FRDA patients and successfully differentiated them into neurons and cardiomyocytes, two affected cell types in FRDA. All FRDA iPSC lines displayed expanded GAA alleles prone to high instability and decreased levels of frataxin, but no biochemical phenotype was observed. Interestingly, both FRDA iPSC-derived neurons and cardiomyocytes exhibited signs of impaired mitochondrial function, with decreased mitochondrial membrane potential and progressive mitochondrial degeneration, respectively. Our data show for the first time that FRDA iPSCs and their neuronal and cardiac derivatives represent promising models for the study of mitochondrial damage and GAA expansion instability 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.