ArticleGenetics research international2013
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
Article in Genetics research international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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Who cites it
24 citing papers in PubMed, 31 citations in OpenAlex.
- CRISPR-Cas9-based therapies for Huntington's disease and Friedreich's ataxia: mechanisms, advances, and future perspectives.Neurogenetics · 2026Review
- Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation.The New phytologist · 2025Review
- Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application.Translational neurodegeneration · 2023Review
- A new FRDA mouse model [Frontiers in neuroscience · 2023Article
- Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.Journal of lipid research · 2022Article
- Epigenetic Basis of Lead-Induced Neurological Disorders.International journal of environmental research and public health · 2020Review
- Epigenetics: Recent Advances and Its Role in the Treatment of Alzheimer's Disease.Frontiers in neurology · 2020Review
- Circulating Cell-Free Nucleic Acids as Epigenetic Biomarkers in Precision Medicine.Frontiers in genetics · 2020Review
- HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.Frontiers in genetics · 2020Article
- Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.PloS one · 2019Article
- Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.Disease models & mechanisms · 2018Article
- The Epigenetics of Alzheimer's Disease: Factors and Therapeutic Implications.Frontiers in genetics · 2018Review
- The time dimension of neurodegeneration: the example of Friedreich's ataxia.Journal of neurology & neuromedicine · 2017Article
- Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.Gene therapy · 2016Article
- A new cellular model to follow Friedreich's ataxia development in a time-resolved way.Disease models & mechanisms · 2015Article
- A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.Disease models & mechanisms · 2015Article
- Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia.British journal of pharmacology · 2014Review
- Epigenetic-based therapies for Friedreich ataxia.Frontiers in genetics · 2014Review
- Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.PloS one · 2014Article
- Epigenetics of Alzheimer's disease and frontotemporal dementia.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2013Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by homozygous expansion of a GAA·TTC trinucleotide repeat within the first intron of the FXN gene, leading to reduced FXN transcription and decreased levels of frataxin protein. Recent advances in FRDA research have revealed the presence of several epigenetic modifications that are either directly or indirectly involved in this FXN gene silencing. Although epigenetic marks may be inherited from one generation to the next, modifications of DNA and histones can be reversed, indicating that they are suitable targets for epigenetic-based therapy. Unlike other trinucleotide repeat disorders, such as Huntington disease, the large expansions of GAA·TTC repeats in FRDA do not produce a change in the frataxin amino acid sequence, but they produce reduced levels of normal frataxin. Therefore, transcriptional reactivation of the FXN gene provides a good therapeutic option. The present paper will initially focus on the epigenetic changes seen in FRDA patients and their role in the silencing of FXN gene and will be concluded by considering the potential epigenetic therapies.
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.