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The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.
- Published in:
- Human Genetics, 2006, v. 120, n. 5, p. 633, doi. 10.1007/s00439-006-0249-3
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- Article
Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3.
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- Journal of Neuroscience, 2008, v. 28, n. 48, p. 12713, doi. 10.1523/JNEUROSCI.3909-08.2008
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- Article
Animal and cellular models of Friedreich ataxia.
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- Journal of Neurochemistry, 2013, v. 126, p. 65, doi. 10.1111/jnc.12219
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- Article
FAST-1 antisense RNA epigenetically alters FXN expression.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35639-2
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- Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
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- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6848, doi. 10.1093/hmg/ddu408
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- Article
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
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- Human Molecular Genetics, 2014, v. 23, n. 25, p. 6838, doi. 10.1093/hmg/ddu407
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- Publication type:
- Article
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.
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- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2662, doi. 10.1093/hmg/ddt115
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- Article
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
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- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu407
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- Publication type:
- Article
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 25, p. 1, doi. 10.1093/hmg/ddu408
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- Publication type:
- Article
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
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- Human Molecular Genetics, 2012, v. 21, n. 13, p. 2855, doi. 10.1093/hmg/dds110
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- Publication type:
- Article
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
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- Human Molecular Genetics, 2008, v. 17, n. 5, p. 735
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- Article
Bone marrow transplantation stimulates neural repair in Friedreich's ataxia mice.
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- 2018
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- Publication type:
- journal article
Cytokine therapy-mediated neuroprotection in a Friedreich's ataxia mouse model.
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- 2017
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- Publication type:
- journal article
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7507, doi. 10.3390/ijms22147507
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- Article
Separate and combined effects of heat stress and exercise on circulatory markers of oxidative stress in euhydrated humans.
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- 2010
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- Publication type:
- journal article
Epigenetic-based therapies for Friedreich ataxia.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00165
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- Publication type:
- Article
Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases.
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- Journal of Nucleic Acids, 2013, p. 1, doi. 10.1155/2013/689798
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- Article
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare.
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- Frontiers in Cellular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fncel.2018.00443
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- Article
The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases.
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- Frontiers in Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnins.2014.00397
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- Publication type:
- Article
Identification of telomere dysfunction in Friedreich ataxia.
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- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0019-6
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- Publication type:
- Article
Cellular, Molecular and Functional Characterisation of YAC Transgenic Mouse Models of Friedreich Ataxia.
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- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107416
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- Publication type:
- Article
MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia.
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- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100523
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- Publication type:
- Article
Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models.
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- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0089488
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- Publication type:
- Article
Friedreich Ataxia Patient Tissues Exhibit Increased 5-Hydroxymethylcytosine Modification and Decreased CTCF Binding at the <i>FXN</i> Locus.
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- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074956
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- Publication type:
- Article
Pharmacological Screening Using an <i>FXN-EGFP</i> Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia.
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- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055940
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- Publication type:
- Article
Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047847
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- Publication type:
- Article
Pms2 Suppresses Large Expansions of the (GAA·TTC)<sub>n</sub> Sequence in Neuronal Tissues.
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- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047085
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- Publication type:
- Article
A novel missense mutation (L198R) in the Friedreich's ataxia gene.
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- Human Mutation, 2000, v. 16, n. 1, p. 95, doi. 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E
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- Publication type:
- Article
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09002-5
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- Publication type:
- Article
HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich's Ataxia.
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- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00584
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- Article
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich’s Ataxia.
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- PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0217776
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- Publication type:
- Article
Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach.
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- Frontiers in Molecular Neuroscience, 2022, v. 15, p. 1, doi. 10.3389/fnmol.2022.912780
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- Publication type:
- Article
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09002-5
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- Publication type:
- Article
Effect of diazoxide on Friedreich ataxia models.
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- Human Molecular Genetics, 2018, v. 27, n. 6, p. 992, doi. 10.1093/hmg/ddy016
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- Publication type:
- Article
A new FRDA mouse model [Fxn<sup>null</sup>:YG8s(GAA) > 800] with more than 800 GAA repeats.
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- Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.930422
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- Article
Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients.
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- Annals of Neurology, 2007, v. 61, n. 1, p. 55, doi. 10.1002/ana.21052
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- Publication type:
- Article
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.
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- Human Molecular Genetics, 2002, v. 11, n. 9, p. 1075, doi. 10.1093/hmg/11.9.1075
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- Article
Friedreich's ataxia: a defect in signal transduction?
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1411
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- Publication type:
- Article
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
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- Human Molecular Genetics, 1993, v. 2, n. 12, p. 2129
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- Publication type:
- Article
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
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- Genetics Research International, 2013, p. 1, doi. 10.1155/2013/852080
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- Publication type:
- Article
The role of mitochondrial labile iron in Friedreich's ataxia skin fibroblasts sensitivity to ultraviolet A.
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- Metallomics, 2019, v. 11, n. 3, p. 656, doi. 10.1039/c8mt00257f
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- Publication type:
- Article
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138437
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- Publication type:
- Article