Published in Hum Mol Genet on October 01, 1997
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Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models. Dis Model Mech (2012) 1.04
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model. Antioxid Redox Signal (2013) 1.03
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes. Ann Neurol (2012) 1.02
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. PLoS One (2009) 1.02
Effects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability. Nucleic Acids Res (2007) 1.02
Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia. J Neurochem (2013) 1.01
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Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics (2007) 1.00
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A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS One (2011) 0.97
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Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn (2004) 0.95
Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities. Antioxid Redox Signal (2013) 0.94
A TAT-frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model. Hum Mol Genet (2011) 0.94
Friedreich ataxia-update on pathogenesis and possible therapies. Neurogenetics (2003) 0.93
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells. Nucleic Acids Res (2012) 0.93
Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei. Proc Natl Acad Sci U S A (2008) 0.92
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation. Front Pharmacol (2014) 0.91
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Mapping brain metals to evaluate therapies for neurodegenerative disease. CNS Neurosci Ther (2010) 0.91
The N-terminus of mature human frataxin is intrinsically unfolded. FEBS J (2009) 0.90
Variations of frataxin protein levels in normal individuals. Neurol Sci (2010) 0.90
Effects of the deletion of the Escherichia coli frataxin homologue CyaY on the respiratory NADH:ubiquinone oxidoreductase. BMC Biochem (2007) 0.89
Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PLoS One (2013) 0.89
Current and emerging treatment options in the management of Friedreich ataxia. Neuropsychiatr Dis Treat (2010) 0.89
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients. Neurol Sci (2008) 0.89
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Friedreich's ataxia is a mitochondrial disorder. Proc Natl Acad Sci U S A (1999) 0.88
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models. PLoS One (2014) 0.87
Expression of human frataxin is regulated by transcription factors SRF and TFAP2. PLoS One (2010) 0.87
Is Friedreich ataxia an epigenetic disorder? Clin Epigenetics (2012) 0.87
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy. Genet Res Int (2013) 0.87
Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template. Nucleic Acids Res (2007) 0.86
Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia. PLoS One (2014) 0.86
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. Hum Mol Genet (2014) 0.86
Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia. PLoS One (2012) 0.86
Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PLoS One (2013) 0.86
Mesenchymal stem cells improve motor functions and decrease neurodegeneration in ataxic mice. Mol Ther (2014) 0.85
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Epigenetics in nucleotide repeat expansion disorders. Semin Neurol (2012) 0.85
Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts. PLoS One (2012) 0.85
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. J Neurol (2015) 0.84
High temperature requirement A3 (HtrA3) promotes etoposide- and cisplatin-induced cytotoxicity in lung cancer cell lines. J Biol Chem (2010) 0.84
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. Hum Mol Genet (2014) 0.84
Evaluation of an FRDA-EGFP genomic reporter assay in transgenic mice. Mamm Genome (2005) 0.84
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Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism. Front Cell Neurosci (2014) 0.83
Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia. Br J Pharmacol (2014) 0.83
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen. BMC Neurol (2009) 0.83
Friedreich ataxia: new pathways. J Child Neurol (2012) 0.82
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