ArticleClinical epigenetics2012
Is Friedreich ataxia an epigenetic disorder?
Article in Clinical epigenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Triplex H-DNA structure: the long and winding road from the discovery to its role in human disease.NAR molecular medicine · 2024Article
- Emerging antioxidant therapies in Friedreich's ataxia.Frontiers in pharmacology · 2024Review
- 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
- Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.Frontiers in neurology · 2021Article
- Effect of Mitochondrial and Cytosolic FXN Isoform Expression on Mitochondrial Dynamics and Metabolism.International journal of molecular sciences · 2020Article
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.The Journal of biological chemistry · 2020Review
- Evaluation of antibodies for western blot analysis of frataxin protein isoforms.Journal of immunological methods · 2019Article
- The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.Frontiers in neuroscience · 2019Review
- Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Intron retention induced by microsatellite expansions as a disease biomarker.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Characterization of human mitochondrial ferritin promoter: identification of transcription factors and evidences of epigenetic control.Scientific reports · 2016Article
- Bromodomain inhibitors regulate the C9ORF72 locus in ALS.Experimental neurology · 2015Article
- Novel antioxidants protect mitochondria from the effects of oligomeric amyloid beta and contribute to the maintenance of epigenome function.ACS chemical neuroscience · 2015Article
- Epigenetics and Triplet-Repeat Neurological Diseases.Frontiers in neurology · 2015Review
- Coupling transcriptional state to large-scale repeat expansions in yeast.Cell reports · 2014Article
- R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.PLoS genetics · 2014Article
- Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells.Molecular cell · 2012Article
- Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.PloS one · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Friedreich ataxia (FRDA) is a debilitating and frequently fatal neurological disorder that is recessively inherited. It belongs to the group of genetic disorders known as the Repeat Expansion Diseases, in which pathology arises from the deleterious consequences of the inheritance of a tandem repeat array whose repeat number exceeds a critical threshold. In the case of FRDA, the repeat unit is the triplet GAA•TTC and the tandem array is located in the first intron of the frataxin (FXN) gene. Pathology arises because expanded alleles make lower than normal levels of mature FXN mRNA and thus reduced levels of frataxin, the FXN gene product. The repeats form a variety of unusual DNA structures that have the potential to affect gene expression in a number of ways. For example, triplex formation in vitro and in bacteria leads to the formation of persistent RNA:DNA hybrids that block transcription. In addition, these repeats have been shown to affect splicing in model systems. More recently, it has been shown that the region flanking the repeats in the FXN gene is enriched for epigenetic marks characteristic of transcriptionally repressed regions of the genome. However, exactly how repeats in an intron cause the FXN mRNA deficit in FRDA has been the subject of much debate. Identifying the mechanism or mechanisms responsible for the FXN mRNA deficit in FRDA is important for the development of treatments for this currently incurable disorder. This review discusses evidence for and against different models for the repeat-mediated mRNA deficit.
Identifiers
What OpenQuestion holds
Registered trials
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.