Property Summary

NCBI Gene PubMed Count 163
PubMed Score 1048.91
PubTator Score 825.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.034 2.3e-02
atypical teratoid / rhabdoid tumor 1.100 4.9e-04
medulloblastoma, large-cell 1.100 6.8e-04
tuberculosis 1.200 2.3e-06
pancreatic ductal adenocarcinoma liver m... -1.423 1.2e-03
lung cancer 1.400 3.5e-04

Protein-protein Interaction (5)

Gene RIF (137)

PMID Text
26704351 In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele.
26671574 Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
26393353 FXN promoter function was directly measured via metabolic labeling of newly synthesized transcripts in fibroblasts, which revealed that the YG8sR mouse was significantly deficient in transcriptional initiation compared to the Y47R mouse.
26379101 The region of chromosome 9 carrying the FXN gene is prone to chromosomal rearrangements in both control and Friedreich ataxia patient cells.
26035392 Engineered a cell line where the presence of an exogenous, inducible FXN gene rescues the cells from the knockout of the two endogenous FXN genes. This system allows the possibility of testing the progression of disease.
26016518 FXN accelerates a rate-limiting sulfur transfer step in the synthesis of [2Fe-2S] clusters on the human Fe-S assembly complex.
25948553 Thus, Src inhibitors emerge as a new class of drugs able to promote frataxin accumulation, suggesting their possible use as therapeutics in Friedreich's Ataxia
25929520 frataxin absence is associated with overexpression of cell death-related genes, cell cycle arrest and oxidative related genes, as well as DNMT1, supporting the notion that DNA repair and epigenetic mechanisms are implicated in Friedreich's ataxia disease.
25831023 We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation
25814655 Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells
25554687 Findings confirm a detrimental effect of frataxin silencing, not only for astrocytes, but also for neuron-glia interactions, underlining the need to take into account the role of non-cell autonomous processes in Friedreich's ataxia.
25159818 This study provides proof of principle that an orally dosed class I HDACi can increase both FXN mRNA and acetylation of a key residue in the blood of FRDA patients.
25158131 The decrease of p53 function and level reduced frataxin mRNA and protein.The transcriptional activity of the human frataxin gene is enhanced by p53.
25112975 FXN promoter silencing in FRDA is dependent on the length of the expanded GAA-TR mutation.
25104852 Reduced expression of frataxin in Friedreich's ataxia leads to elevation of COX2-mediated oxylipin synthesis stimulated by increases in transcription factors that respond to increased reactive oxygen species.
24997422 dysregulated Fe-S cluster biogenesis is a primary effect of both frataxin overexpression and deficiency as in Friedreich's ataxia.
24971490 Fe-S assembly protein and frataxin convert substrates l-cysteine, ferrous iron, and electrons into Fe-S clusters.
24920569 The pathological frataxin mutation L198R yields a global destabilization of the structure.
24819921 In Friedreich ataxia, aberrant glucose metabolism is linked to increasing age, longer GAA repeat length on the shorter allele, frataxin point mutations, and increasing Body Mass Index.
24816001 Patients with a FXN p.R165P missense mutation progress to a less disabling disease state than typical Friedreich ataxia patients
24787137 provides a direct molecular link between R-loops and the pathology of TREDs, suggesting that R-loops act as an initial trigger to promote FXN and FMR1 silencing
24737321 Deficient transcriptional initiation, and not elongation, is the major cause of FXN transcriptional deficiency in Friedreich ataxia.
24613765 Study determined the frequencies and repeat lengths for FXN trinucleotide repeat expansions in familial and sporadic amyotrophic lateral sclerosis cohorts, as well as in healthy controls
24217246 The data presented here show that the Isu1 suppressor mimics the frataxin effects on Nfs1, explaining the bypassing activity.
24138602 review focuses on the emerging function of frataxin in relation to the observed alterations in mitochondrial iron metabolism in Friedreich's ataxia.
24023969 Increased DNA methylation at the FXN upstream GAA region, primarily 5 hmC rather than 5 mC, and decreased CTCF occupancy at the FXN 5' UTR are associated with FRDA disease-relevant human tissues.
23909240 suggest that iron coordination to frataxin may be significant to the Fe-S cluster biosynthesis pathway in mitochondria.
23879205 This early failure, aggravating frataxin deficiency in a specifically vulnerable human cell population, indicates a developmental component in Friedreich ataxia .
23859340 frataxin is a crucial element of one of the most essential cellular machines specialized in iron-sulfur cluster biogenesis--{REVIEW}
23691127 Higher frataxin levels predicted less severe neurological dysfunction and were associated with slower rates of neurological change.
23574943 and the distribution of Nrf2 in silenced neurons for frataxin gene. Decreased Nrf2 mRNA content and a defective activation after treatment with pro-oxidants have been evidenced in frataxin-silenced neurons
23382970 Our results suggest for the first time that post-transcriptional regulation of frataxin occurs through the 3'-UTR and involves miRNA targeting.
23350650 The results support a mechanistic hypothesis in which frataxin deficiency decreases Nrf2 expression in vivo, causing the sensitivity to oxidative stress in target tissues the DRG and the cerebella, which contributes to the process of neurodegeneration.
23334592 The guanine-adenine-adenine trinucleotide repeat expansion of FXN caused Friedreich ataxia.
23269675 frataxin point mutations have complex biochemical effects that synergistically contribute to the pathophysiology of Friedreich ataxia.
23196337 This study described a novel deletion in exon 5a of the FXN gene in patient with Friedreich ataxia.
23082224 The protein level of isoform III decreased in Friedreich ataxia (FRDA] patient heart, while the mRNA level of isoform II decreased more in FRDA patient cerebellum compared to total FXN mRNA.
23049850 local unfolding of the C-terminal region may be a critical step for the global unfolding of hFXN, and modulation of the CTR interactions may strongly affect hFXN physiological function
22897349 Photoreactive heterotrifunctional chemical cross-linking confirmed the interaction between frataxin and ISCU in the presence of iron and validated that transient interactions can be covalently trapped with this method.
22764244 Selective reduction in microRNA (miR)-886-3p by an anti-miR leads to elevation of FXN message and protein levels without associated changes in histone marks at the FXN locus.
22691228 We describe an FRDA patient who is compound heterozygous for an expanded GAA repeat and a complete gene deletion.
22587705 Transcription activator-like effector proteins induce the expression of the frataxin gene
22522441 These novel findings provide compelling evidence for the link between the GAA expansion, the DNA methylation profile, FXN expression, and clinical outcome in Friedreich ataxia
22447512 findings show frataxin levels can be upregulated by interferon gamma in a variety of cell types, including primary cells derived from Friedreich's ataxia (FRDA) patients;results disclose new roles for IFNgamma in cellular metabolism and have direct implications for the treatment of FRDA
22409940 Friedreich ataxia due to an exonic deletion mutation corresponds to an early onset and severe variant of frataxin Friedreich ataxia protein.
22399236 In islets from type 2 diabetes mellitus patients FXN expression is reduced while oxidative stress is increased and insulin release in response to glucose impaired.
22352884 role of frataxin in Fe-S assembly
22095894 frataxin is involved in various processes related to iron homeostasis and metabolism. [review]
21863062 dual, pro-proliferative but chemosensitizing role in astrocytic tumors
21830088 Results describe novel deletion-insertion mutation in exon 3 of frataxin in siblings with severe Friedreich ataxia.
21776984 Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.
21760943 Computational analyses were performed on the 21.3 kb region upstream of exon 1 of the human FXN gene and orthologs from other species in order to identify conserved non-coding DNA sequences with potential regulatory functions.
21745819 The data provide strong evidence that FXN deficiency in FRDA patients results from a block of transition from initiation to a productive elongation of FXN transcription due to heterochromatin-like structures formed near the hyperexpanded GAAs.
21671584 Fxn facilitates sulfur transfer from Nfs1 to Isu2.
21570254 the number of GAA repeats in the smaller allele of the FXN gene, whereas septal E; was not correlated with GAA repeat number. At 5 years, there was a reduction in lateral S; and E; but no change in septal TDI velocities.
21550666 [review] In both cellular and animal model systems, the replacement of frataxin function seems to alleviate the symptoms of Friedrich's ataxia or even completely reverse the phenotype.
21531789 Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
21412413 The first explorative study on combined frataxin and mRNA levels in peripheral blood mononuclear cells from a cohort of Friedreich's ataxia patients, carriers and healthy individuals, is reported.
21368894 Frataxin expression is upregulated in tumor cell lines in response to hypoxic stress.
21298097 interaction of frataxin with the core ISCU/NFS1/ISD11 complex most likely defines the essential function of frataxin
21216878 Preventing the ubiquitin-proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia.
20889968 Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20873749 human frataxin functions with Fe(2+) as an allosteric activator that triggers sulfur delivery and Fe-S cluster assembly
20819074 Data indicate that Salmonella enterica serotype Typhimurium TA104 strains transformed with human frataxin show decreased mutation rates.
20808827 two transcription factors, SRF and TFAP2, as well as an intronic element encompassing EGR3-like sequence, that work together to regulate expression of the FXN gene
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20569261 Low predisposition to instability of the Friedreich ataxia gene in Cuban population
20506029 we found a high variation of frataxin protein levels among healthy Austrian people
20506029 Observational study of genotype prevalence. (HuGE Navigator)
20461801 Observational study of gene-disease association. (HuGE Navigator)
20053667 The cytosolic aconitase defect and consequent IRP1 activation occurring in FRDA cells are reversed by the action of extramitochondrial frataxin.
19956589 there is a a severe depletion of CTCF in the 5'UTR of the FXN gene in FRDA, and coincident heterochromatin formation involving the +1 nucleosome via enrichment of H3K9me3 and recruitment of heterochromatin protein 1
19913121 Observational study of gene-disease association. (HuGE Navigator)
19843162 Data show that -terminus region is flexible and intrinsically unfolded in human frataxin.
19772192 Molecular genetic studies revealed that all Friedreich's ataxia patients in the Paphos district of Cyprus had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the frataxin gene.
19772192 Observational study of genotype prevalence. (HuGE Navigator)
19679182 frataxin deficiency triggers inflammatory changes and death of Schwann cells that is inhibitable by inflammatory and anti-apoptotic drugs.
19376812 The PPARG pathway is dysregulated in frataxin deficient mice and Friedreich's ataxia patients.
19259763 Observational study of gene-disease association. (HuGE Navigator)
19182486 identification nof a novel point mutation (c.165 + 1 G ] A) which involves the consensus GT dinucleotide in the 3'splice acceptor site of intron 1 of the frataxin gene in two compound heterozygous siblings with Friedreich ataxia
19104905 Azelaoyl PAF significantly increases the intracellular frataxin levels by twofold in the neuroblastoma cell line SKNBE and fibroblasts from FRDA patients and Azelaoyl PAF increases frataxin protein through a transcriptional mechanism.
19064571 Observational study of gene-disease association. (HuGE Navigator)
18768799 Although in human cells frataxin must be processed to execute its function, the same protein in the T. brucei mitochondrion is functional even in the absence of processing
18759347 Observational study of gene-disease association. (HuGE Navigator)
18725397 evidence provided that mature frataxin corresponds to m(81)-FXN, and can rescue the lethal phenotype of fibroblasts deleted for frataxin; study demonstrates that all frataxin isoforms are generated and localized within the mitochondria
18697824 DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia.
18687468 We did not find any mutations or polymorphisms, nor expansion of the intronic trinucleotide repeat of the frataxin gene in refractory anemia with ring sideroblasts
18682748 Observational study of gene-disease association. (HuGE Navigator)
18597733 The intronic GAA repeat expansion in the FXN gene causes the hereditary neurodegenerative disorder Friedreich ataxia.
18581197 Regulatory effects of recombinant human erythropoietin occur at the post-translational level.
18537827 Results demonstrate a substantial decrease in the thermodynamic stability of the frataxin variants during chemical and thermal unfolding.
18464277 Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA.
18425540 the iron-dependent binding affinity of each frataxin derivative to the iron-sulfur cluster scaffold protein ISU is found to be similar to that of native frataxin
18424449 Frataxin expression is regulated by iron; frataxin mRNA levels decrease significantly in multiple human cell lines treated with the iron chelator, desferal.
18379460 Friedrich's disease presents a typical mutation, an expansion of trinucleotide GAA-repeats, in the FRDA gene.
18160053 Frataxin has some roles in controlling the balance between different mitochondrial iron pools that are partially in common with those of mitochondrial ferritin.
18045804 The effect of DNA double-strand break repair on instability of the (GAA*TTC)n sequence of the FXN gene.
18045775 The FXN GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
17703324 In heterozygosity for a null allele, a strong correlation was observed between the size of GAA expansion and the age at onset, supporting the hypothesis that the residual function of frataxin in patients' cells derive exclusively from the expanded allele.
17478498 Identification of a region that is important for maximal FXN gene expression and show that repeat expansion leads to changes in DNA methylation and chromatin organization in this region.
17468497 analysis of frataxin and its maturation in human cells
17468497 In living cells, the main form of mature frataxin is generated by a proteolytic cleavage between Lys80 and Ser81, yielding a 130 aa protein (frataxin 81-210).
17331979 Frataxin interacts with ISD11 and multiple mitochondrial chaperones.
17285345 N-terminus of Mitochondrial processing peptidase-processed frataxin shows a unique high-affinity iron site and that this iron center appears to mediate a self-cleavage reaction
17262846 Progressive GAA expansions of FXN protein in dorsal root ganglia of Friedreich's ataxia patients.
17098208 Earliest consequences of frataxin deficiency occur in ISC proteins of the cytoplasm, resulting in oxidative damage and stress and activation of the unfolded protein response which has been associated with neurological disease.
16857735 Data suggest that DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats and reduced levels of frataxin in Friedreich's ataxia.(
16787388 A comparison the comformational properties of wild-type and mutant frataxins under physiological conditions and under adverse conditions are reported.
16677095 Frataxin, iron-sulfur clusters, heme and reactive oxygen species have roles in aging
16608849 extramitochondrial frataxin can fully replace mitochondrial frataxin in promoting survival of FA cells
16608849 Human mature frataxin is distributed between two distinct subcellular compartments; both mitochondrial and extramitochondrial forms can suppress apoptosis.
16263703 an increase in oxidative metabolism induced by mitochondrial frataxin may inhibit cancer growth in mammals
16203742 Deficiency of transgenic frataxin protein in Drosophila embryos results in diminished activities of numerous heme- and iron-sulfur-containing enzymes, loss of intracellular iron homeostasis and increased susceptibility to iron toxicity
16091420 Data suggest that frataxin may be involved in the biosynthesis of iron-sulphur proteins such as IscU1 not only within the mitochondria, but also in the extramitochondrial compartment.
15827563 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
15641778 Analysis of stable monomeric and assembled forms of human frataxin reveals that the assembled protein has ferroxidase activity and detoxifies redox-active iron by sequestering it in a protein-protected compartment.
15581888 frataxin is a modular protein that depends on self-assembly to accomplish its diverse functions
15534367 The FRDA GAA repeat mutation in Friedreich ataxia is destabilized, frequently undergoing large contractions, during DNA replication.
15509595 results demonstrate (i) that frataxin is a component of the human Fe/S cluster assembly machinery and (ii) that it plays a role in the maturation of both mitochondrial and cytosolic Fe/S proteins
15304363 Transgenic mice show an altered response during hematopoietic differentiation, suggesting that frataxin may directly affect heme synthesis.
15247478 frataxin is an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation
15233994 mouse model of FRDA GAA repeat instability
15180699 Observational study of genotype prevalence. (HuGE Navigator)
15180699 We found one novel haplotype, ACCT, among the expanded alleles as well as among normal individuals, though at low frequency; this haplotype may be characteristic of Indian populations
15123683 analysis of frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis
14962663 Friedreich ataxia is caused by expansion of a GAA triplet repeat (GAA-TR) in the FRDA gene.
12785837 Frataxin functions as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.
12755598 The extended X-ray absorption fine structure (EXAFS) analysis agrees with previous electron microscopy data showing that frataxin cores are composed of very small ferrihydrite crystallites.
12354077 Expansion of GAA repeats in the intron of this gene is involved in the autosomal recessive Friedreich ataxia.
12140189 molecular structure and iron-binding properties
12019217 frataxin protein is concluded to have a protective role for the nucleus as well as the mitochondria
11862710 association of polymorphic trinucleotide repeat (GAA)n with diabetes mellitus type 2 in the Moscow population
11857753 Frataxin and cardiac troponin T gene mutations co-exist in a child with Friedreich ataxia and familial hypertrophic cardiomyopathy.
11823441 findings suggest that Friedreich ataxia results from decreased mitochondrial iron storage due to frataxin deficiency which may impair iron metabolism, promote oxidative damage and lead to progressive iron accumulation
11810294 trinucleotide repeat in friedreich ataxia
11121205 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MWTLGRRAVAGLLASPSPAQAQTLTRVPRPAELAPLCGRRGLRTDIDATCTPRRASSNQRGLNQIWNVKK      1 - 70
QSVYLMNLRKSGTLGHPGSLDETTYERLAEETLDSLAEFFEDLADKPYTFEDYDVSFGSGVLTVKLGGDL     71 - 140
GTYVINKQTPNKQIWLSSPSSGPKRYDWTGKNWVYSHDGVSLHELLAAELTKALKTKLDLSSLAYSGKDA    141 - 210
//

Text Mined References (166)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26704351 2016 Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
26671574 2015 Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
26393353 2015 FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
26379101 2015 Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
26035392 2015 A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
26016518 2015 Frataxin Accelerates [2Fe-2S] Cluster Formation on the Human Fe-S Assembly Complex.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25948553 2015 Src inhibitors modulate frataxin protein levels.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25929520 2015 Novel aberrant genetic and epigenetic events in Friedreich's ataxia.
25831023 2015 Friedreich's ataxia--a case of aberrant transcription termination?
25814655 2015 Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
25554687 2015 Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity.
25159818 2014 Epigenetic therapy for Friedreich ataxia.
25158131 2014 p53 directly regulates the transcription of the human frataxin gene and its lack of regulation in tumor cells decreases the utilization of mitochondrial iron.
25112975 2014 Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.
25104852 2014 Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
24997422 2014 The role of frataxin in fission yeast iron metabolism: implications for Friedreich's ataxia.
24971490 2014 Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
24920569 2014 The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
24819921 2014 Cross-sectional analysis of glucose metabolism in Friedreich ataxia.
24816001 2014 Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
24787137 2014 R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.
24737321 2014 Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.
24613765 2014 FXN GAA repeat expansions in amyotrophic lateral sclerosis.
24217246 2013 Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly.
24138602 2014 Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia.
24023969 2013 Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
23909240 2013 His86 from the N-terminus of frataxin coordinates iron and is required for Fe-S cluster synthesis.
23879205 2013 Induced pluripotent stem cells from friedreich ataxia patients fail to upregulate frataxin during in vitro differentiation to peripheral sensory neurons.
23859340 2013 Frataxin: a protein in search for a function.
23691127 2013 Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.
23574943 2013 Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons.
23382970 2013 Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.
23350650 2013 Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model.
23334592 2013 Friedreich ataxia: neuropathology revised.
23269675 2013 Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
23196337 2013 Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
23082224 2012 Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.
23049850 2012 Protein stability and dynamics modulation: the case of human frataxin.
22897349 2012 Heterotrifunctional chemical cross-linking mass spectrometry confirms physical interaction between human frataxin and ISU.
22764244 2012 miR-886-3p levels are elevated in Friedreich ataxia.
22691228 2012 Complete FXN deletion in a patient with Friedreich's ataxia.
22587705 2012 Transcription activator-like effector proteins induce the expression of the frataxin gene.
22522441 2012 FXN methylation predicts expression and clinical outcome in Friedreich ataxia.
22447512 2012 Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
22409940 2012 Exonic deletions of FXN and early-onset Friedreich ataxia.
22399236 2012 Evidence for a role of frataxin in pancreatic islets isolated from multi-organ donors with and without type 2 diabetes mellitus.
22352884 2012 Effector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis.
22095894 2012 Exploring frataxin function.
21863062 2011 Dual role of the mitochondrial protein frataxin in astrocytic tumors.
21830088 2011 A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
21776984 2011 Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.
21760943 2011 Long range regulation of human FXN gene expression.
21745819 2011 Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.
21671584 2011 Friedreich's ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex.
21570254 2011 Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change.
21550666 2011 Friedreich's ataxia: past, present and future.
21531789 2011 Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
21412413 2011 A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
21368894 2011 Frataxin participates to the hypoxia-induced response in tumors.
21298097 2011 Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
21269460 2011 Initial characterization of the human central proteome.
21216878 2011 Preventing the ubiquitin-proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia.
20889968 2010 Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20873749 2010 Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
20819074 2010 The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
20808827 2010 Expression of human frataxin is regulated by transcription factors SRF and TFAP2.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20569261 2010 Low predisposition to instability of the Friedreich ataxia gene in Cuban population.
20506029 2011 Variations of frataxin protein levels in normal individuals.
20461801 2010 Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia.
20053667 2010 Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
19956589 2009 Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19843162 2009 The N-terminus of mature human frataxin is intrinsically unfolded.
19772192 2009 High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.
19679182 2009 Frataxin deficiency induces Schwann cell inflammation and death.
19629184 2009 The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
19376812 2009 Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia.
19259763 2009 The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
19182486 2009 Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset.
19104905 2009 PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
18768799 2008 Mitochondrial localization of human frataxin is necessary but processing is not for rescuing frataxin deficiency in Trypanosoma brucei.
18759347 2008 Predictors of progression in patients with Friedreich ataxia.
18725397 2008 The in vivo mitochondrial two-step maturation of human frataxin.
18697824 2008 DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
18687468 2009 Absence of frataxin mutations in refractory anemia with ring sideroblasts (RARS).
18682748 2008 Analysis of 17,576 potentially functional SNPs in three case-control studies of myocardial infarction.
18597733 2008 Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.
18581197 2008 Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression.
18537827 2008 Dynamics, stability and iron-binding activity of frataxin clinical mutants.
18464277 2008 Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
18425540 2008 Mapping iron binding sites on human frataxin: implications for cluster assembly on the ISU Fe-S cluster scaffold protein.
18424449 2008 Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
18379460 2007 [The use of noben for correction of mitochondrial disorders in Friedrich's disease].
18160053 2008 The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin.
18045804 2008 Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence.
18045775 2008 The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
17703324 2007 Frataxin gene point mutations in Italian Friedreich ataxia patients.
17478498 2007 Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
17468497 2007 In vivo maturation of human frataxin.
17331979 2007 Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
17285345 2007 N-terminal iron-mediated self-cleavage of human frataxin: regulation of iron binding and complex formation with target proteins.
17262846 2007 Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17098208 2007 Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts.
16857735 2006 DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia.
16787388 2006 Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16677095 Frataxin, iron-sulfur clusters, heme, ROS, and aging.
16608849 2006 A pool of extramitochondrial frataxin that promotes cell survival.
16263703 2006 Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited.
16239244 2005 Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
16203742 2005 RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
16091420 2005 Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.
15961414 2005 Frataxin interacts functionally with mitochondrial electron transport chain proteins.
15827563 2005 Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.
15641778 2005 Assembly of human frataxin is a mechanism for detoxifying redox-active iron.
15581888 2005 Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region.
15534367 2004 Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
15509595 2004 Iron-sulfur protein maturation in human cells: evidence for a function of frataxin.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15304363 2004 Frataxin overexpressing mice.
15247478 2004 Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.
15233994 2004 GAA repeat instability in Friedreich ataxia YAC transgenic mice.
15180699 2004 Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.
15164053 2004 DNA sequence and analysis of human chromosome 9.
15123683 2004 Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.
14962663 2004 Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.
12785837 2003 Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.
12755598 2003 Structure of frataxin iron cores: an X-ray absorption spectroscopic study.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12354789 2002 A non-essential function for yeast frataxin in iron-sulfur cluster assembly.
12354077 2002 Origin and instability of GAA repeats: insights from Alu elements.
12140189 2002 A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.
12019217 2002 The mitochondrial protein frataxin prevents nuclear damage.
11862710 [Association of polymorphic trinucleotide repeat (GAA)n of the Frataxin gene with diabetes mellitus type 2 in the Moscow population].
11857753 2002 Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.
11823441 2002 Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.
11121205 2000 Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population.
11020385 2000 Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.
10903947 2000 Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.
10900192 2000 Crystal structure of human frataxin.
10874325 2000 A novel missense mutation (L198R) in the Friedreich's ataxia gene.
10732799 1998 The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.
10545606 1999 Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.
10428860 1999 Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.
10399865 1999 Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study.
9989622 1999 Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
9779809 1998 Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
9737785 1998 Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor.
9700204 1998 Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
9331900 1997 Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.
9326946 1997 Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
9302253 1997 Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
9241271 1997 Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue.
9241270 1997 Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
9180083 1997 Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.
9150176 1997 Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
8841185 1996 The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.
8596916 1996 Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
7485155 1995 The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.