ReviewDisease models & mechanisms2012
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Review in Disease models & mechanisms, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
37 citing papers in PubMed.
- Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.Journal of neurology · 2023Trial
- Alpha-lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia.Orphanet journal of rare diseases · 2025Article
- Core biological principles and tools stemming from basic Arabidopsis research.The Plant cell · 2025Review
- AAGGG repeat expansions triggerScience advances · 2024Article
- Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.Annals of clinical and translational neurology · 2024Article
- The Janus-Faced Role of Lipid Droplets in Aging: Insights from the Cellular Perspective.Biomolecules · 2023Review
- Perspectives on current models of Friedreich's ataxia.Frontiers in cell and developmental biology · 2022Article
- Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich's Ataxia.Antioxidants (Basel, Switzerland) · 2020Review
- C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?Acta neuropathologica · 2020Review
- Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.International journal of molecular sciences · 2020Review
- Molecular Defects in Friedreich's Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities.Frontiers in molecular biosciences · 2020Review
- Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide.Scientific reports · 2019Article
- Increased Frataxin Expression Induced in Friedreich Ataxia Cells by Platinum TALE-VP64s or Platinum TALE-SunTag.Molecular therapy. Nucleic acids · 2018Article
- Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.Cerebellum (London, England) · 2017Article
- Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.Biology open · 2016Article
- Cardiomyopathy in a dish: using human inducible pluripotent stem cells to model inherited cardiomyopathies.Journal of cardiac failure · 2015Review
- A new cellular model to follow Friedreich's ataxia development in a time-resolved way.Disease models & mechanisms · 2015Article
- Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery.Biochimica et biophysica acta · 2015Review
- Oxidative stress and the homeodynamics of iron metabolism.Biomolecules · 2015Review
- The promise and perils of HDAC inhibitors in neurodegeneration.Annals of clinical and translational neurology · 2015Review
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 1996, a link was identified between Friedreich's ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN). Initial studies revealed that the disease is caused by a unique, most frequently biallelic, expansion of the GAA sequence in intron 1 of FXN. Since the identification of this link, there has been tremendous progress in understanding frataxin function and the mechanism of FRDA pathology, as well as in developing diagnostics and therapeutic approaches for the disease. These advances were the subject of the 4th International Friedreich's Ataxia Conference held on 5th-7th May in the Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France. More than 200 scientists gathered from all over the world to present the results of research spanning all areas of investigation into FRDA (including clinical aspects, FRDA pathogenesis, genetics and epigenetics of the disease, development of new models of FRDA, and drug discovery). This review provides an update on the understanding of frataxin function, developments of animal and cellular models of the disease, and recent advances in trying to uncover potential molecules for therapy.
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