ReviewPharmacology & therapeutics2007
Small molecules affecting transcription in Friedreich ataxia.
Review in Pharmacology & therapeutics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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.
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Who cites it
29 citing papers in PubMed, 66 citations in OpenAlex.
- Mitochondrial DNA release and sensing in innate immune responses.Human molecular genetics · 2024Review
- Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response.Disease models & mechanisms · 2023Article
- Selected Histone Deacetylase Inhibitors Reverse the Frataxin Transcriptional Defect in a Novel Friedreich's Ataxia Induced Pluripotent Stem Cell-Derived Neuronal Reporter System.Frontiers in neuroscience · 2022Article
- Correlation between frataxin expression and contractility revealed by in vitro Friedreich's ataxia cardiac tissue models engineered from human pluripotent stem cells.Stem cell research & therapy · 2019Article
- Induced pluripotent stem cell technology for modelling and therapy of cerebellar ataxia.Open biology · 2015Review
- Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.Molecular therapy : the journal of the American Society of Gene Therapy · 2015Article
- Epigenetics and Triplet-Repeat Neurological Diseases.Frontiers in neurology · 2015Review
- Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.Frontiers in pharmacology · 2014Review
- Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia.Molecular and cellular neurosciences · 2013Review
- Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.The Journal of biological chemistry · 2013Article
- Friedreich's ataxia, frataxin, PIP5K1B: echo of a distant fracas.Oxidative medicine and cellular longevity · 2013Review
- Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia.Journal of child neurology · 2012Review
- Therapeutic developments in Friedreich ataxia.Journal of child neurology · 2012Review
- Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.Disease models & mechanisms · 2012Review
- Transcription elongation and tissue-specific somatic CAG instability.PLoS genetics · 2012Article
- Article
- Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.Journal of the neurological sciences · 2011Review
- Frataxin participates to the hypoxia-induced response in tumors.Cell death & disease · 2011Article
- Long range regulation of human FXN gene expression.PloS one · 2011Article
- Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.Cell stem cell · 2010Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
This review concerns the development of small molecule therapeutics for the inherited neurodegenerative disease Friedreich ataxia (FRDA). FRDA is caused by transcriptional repression of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin and accompanying loss of frataxin protein. Frataxin insufficiency leads to mitochrondrial dysfunction and progressive neurodegeneration, along with scoliosis, diabetes and cardiomyopathy. Individuals with FRDA generally die in early adulthood from the associated heart disease, the most common cause of death in FRDA. While antioxidants and iron chelators have shown promise in ameliorating the symptoms of the disease, there is no effective therapy for FRDA that addresses the cause of the disease, the loss of frataxin protein. Gene therapy and protein replacement strategies for FRDA are promising approaches; however, current technology is not sufficiently advanced to envisage treatments for FRDA coming from these approaches in the near future. Since the FXN mutation in FRDA, expanded GAA.TTC triplets in an intron, does not alter the amino acid sequence of frataxin protein, gene reactivation would be of therapeutic benefit. Thus, a number of laboratories have focused on small molecule activators of FXN gene expression as potential therapeutics, and this review summarizes the current status of these efforts, as well as the molecular basis for gene silencing in FRDA.
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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.