Published in Genomics on May 10, 2007
Progressive GAA.TTC repeat expansion in human cell lines. PLoS Genet (2009) 1.32
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal (2010) 1.27
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res (2008) 1.23
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia. Dis Model Mech (2012) 1.13
Friedreich's ataxia (GAA)n•(TTC)n repeats strongly stimulate mitotic crossovers in Saccharomyces cerevisae. PLoS Genet (2011) 1.06
Somatic genome variations in health and disease. Curr Genomics (2010) 1.04
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiol Dis (2012) 1.00
DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells. J Biol Chem (2012) 0.97
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells. Nucleic Acids Res (2012) 0.93
Genome-wide screen identifies pathways that govern GAA/TTC repeat fragility and expansions in dividing and nondividing yeast cells. Mol Cell (2012) 0.92
Multicellular models of Friedreich ataxia. J Neurol (2009) 0.91
Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One (2012) 0.90
Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence. Nucleic Acids Res (2007) 0.89
Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus. J Neuropathol Exp Neurol (2015) 0.85
MutLα heterodimers modify the molecular phenotype of Friedreich ataxia. PLoS One (2014) 0.81
Neurodegeneration in Friedreich's ataxia: from defective frataxin to oxidative stress. Oxid Med Cell Longev (2013) 0.80
Unanswered questions in Friedreich ataxia. J Child Neurol (2012) 0.80
Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia. PLoS One (2014) 0.79
Determining microsatellite genotyping reliability and mutation detection ability: an approach using small-pool PCR from sperm DNA. Mol Genet Genomics (2010) 0.79
'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'. Cell Death Dis (2016) 0.79
Transposon Tn7 preferentially inserts into GAA*TTC triplet repeats under conditions conducive to Y*R*Y triplex formation. PLoS One (2010) 0.78
Milestones in Friedreich ataxia: more than a century and still learning. Neurogenetics (2015) 0.77
DNA dynamics is likely to be a factor in the genomic nucleotide repeats expansions related to diseases. PLoS One (2011) 0.76
Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example. Biopreserv Biobank (2016) 0.76
Complexes between two GAA Repeats within DNA introduced into Cos-1 cells. Mob Genet Elements (2012) 0.75
The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion. PLoS Genet (2016) 0.75
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet (2007) 2.22
Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet (2004) 1.98
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet (2009) 1.85
Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet (2013) 1.79
Increased BDNF promoter methylation in the Wernicke area of suicide subjects. Arch Gen Psychiatry (2010) 1.49
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum Mol Genet (2002) 1.48
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci (2008) 1.44
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study. Am J Hum Genet (2012) 1.41
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One (2009) 1.40
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol (2007) 1.29
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol Dis (2011) 1.29
GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics (2004) 1.26
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. Neurogenetics (2006) 1.24
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. Hum Genet (2006) 1.20
Genome-wide DNA methylation patterns in naive CD4+ T cells from patients with primary Sjögren's syndrome. Arthritis Rheumatol (2014) 1.20
The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet (2002) 1.14
Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics (2004) 1.14
Genome-wide scan for signatures of human population differentiation and their relationship with natural selection, functional pathways and diseases. PLoS One (2009) 1.14
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (2013) 1.11
PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia. PLoS One (2010) 1.11
Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. Eur J Hum Genet (2013) 1.10
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res (2004) 1.10
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3. Hum Mol Genet (2013) 1.08
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. Hum Mol Genet (2002) 1.05
A novel approach to simulate gene-environment interactions in complex diseases. BMC Bioinformatics (2010) 1.04
Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. Arthritis Rheum (2010) 1.04
Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2. J Cell Sci (2005) 1.03
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. Am J Med Genet (2002) 1.02
Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression. Cerebellum (2008) 1.01
Analysis of unstable triplet repeats using small-pool polymerase chain reaction. Methods Mol Biol (2004) 1.01
Huntington's Disease-like 2 (HDL2) in North America and Japan. Ann Neurol (2004) 1.01
Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations. Arthritis Rheum (2012) 1.01
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiol Dis (2012) 1.00
Expansion of GAA trinucleotide repeats in mammals. Genomics (2005) 0.99
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats. Nucleic Acids Res (2006) 0.98
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS One (2011) 0.97
Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol (2004) 0.96
PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy. Cerebellum (2008) 0.95
Simulating gene-gene and gene-environment interactions in complex diseases: Gene-Environment iNteraction Simulator 2. BMC Bioinformatics (2012) 0.92
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Mov Disord (2010) 0.91
A pathogenetic classification of hereditary ataxias: is the time ripe? J Neurol (2004) 0.91
Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One (2012) 0.90
Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence. Nucleic Acids Res (2007) 0.89
Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Ann Neurol (2014) 0.88
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model. Hum Mol Genet (2012) 0.88
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. Hum Mol Genet (2002) 0.87
Role of transcript and interplay between transcription and replication in triplet-repeat instability in mammalian cells. Nucleic Acids Res (2010) 0.87
Triplet repeat instability correlates with dinucleotide instability in primary breast cancer. Oncol Rep (2007) 0.87
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy. Genet Res Int (2013) 0.87
Beta2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus. BMC Med Genet (2006) 0.87
Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry. PLoS One (2013) 0.86
Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia. PLoS One (2012) 0.86
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
Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations. Hum Mol Genet (2013) 0.85
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17. Eur J Hum Genet (2007) 0.84
Shorter telomeres in patients with cerebral autosomal dominant arteriopathy and leukoencephalopathy (CADASIL). Neurogenetics (2011) 0.84
Improving the estimation of celiac disease sibling risk by non-HLA genes. PLoS One (2011) 0.84
Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord (2007) 0.84
Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation. BMC Evol Biol (2010) 0.84
Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. Neuroreport (2003) 0.84
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. Neurosci Lett (2006) 0.83
CpG islands undermethylation in human genomic regions under selective pressure. PLoS One (2011) 0.83
Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia. Neurosci Lett (2002) 0.83
Apolipoprotein E epsilon4 allele is associated with Parkinson disease risk in a Mexican Mestizo population. Mov Disord (2007) 0.82
Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. Epilepsy Res (2002) 0.82
Oxidative DNA damage and activation of c-Jun N-terminal kinase pathway in fibroblasts from patients with hereditary spastic paraplegia. Cell Mol Neurobiol (2005) 0.82
Down-regulation of otospiralin mRNA in response to acoustic stress in guinea pig. Hear Res (2004) 0.81
Presymptomatic diagnosis in Huntington's disease: the Mexican experience. Genet Test Mol Biomarkers (2009) 0.81
Antibody-secreting cell specificity in labial salivary glands reflects the clinical presentation and serology in patients with Sjögren's syndrome. Arthritis Rheumatol (2014) 0.81
Clinical and genetic characteristics of Mexican Huntington's disease patients. Mov Disord (2009) 0.81
Separate and combined effects of heat stress and exercise on circulatory markers of oxidative stress in euhydrated humans. Eur J Appl Physiol (2010) 0.81
Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients. Cardiovasc Diabetol (2010) 0.81
Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics (2004) 0.81
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. Epilepsia (2009) 0.81
Recent developments in the quest for myoclonic epilepsy genes. Epilepsia (2003) 0.79
E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence. Mutat Res (2008) 0.78