frataxin

Summary

Gene Symbol: frataxin
Description: frataxin
Alias: CyaY, FARR, FRDA, X25, frataxin, mitochondrial, Friedreich ataxia protein
Species: human
Products:     frataxin

Top Publications

  1. Condo I, Ventura N, Malisan F, Tomassini B, Testi R. A pool of extramitochondrial frataxin that promotes cell survival. J Biol Chem. 2006;281:16750-6 pubmed
    b>Frataxin is a mitochondrial protein involved in iron metabolism. Defective expression of frataxin causes Friedreich ataxia (FA), an inherited degenerative syndrome characterized by ataxia, cardiomyopathy, and high incidence of diabetes...
  2. Li K, Singh A, Crooks D, Dai X, Cong Z, Pan L, et al. Expression of human frataxin is regulated by transcription factors SRF and TFAP2. PLoS ONE. 2010;5:e12286 pubmed publisher
    Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN...
  3. Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 1997;16:345-51 pubmed
    Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function...
  4. Bridwell Rabb J, Winn A, Barondeau D. Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex. Biochemistry. 2011;50:7265-74 pubmed publisher
    ..ataxia (FRDA) is a progressive neurodegenerative disease associated with the loss of function of the protein frataxin (FXN) that results from low FXN levels due to a GAA triplet repeat expansion or, occasionally, from missense ..
  5. Yoon T, Cowan J. Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis. J Biol Chem. 2004;279:25943-6 pubmed
    ..A general regulatory mechanism for mitochondrial iron metabolism is described that defines frataxin involvement in both heme and iron-sulfur cluster biosyntheses...
  6. Koutnikova H, Campuzano V, Koenig M. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Hum Mol Genet. 1998;7:1485-9 pubmed
    b>Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA) and which is associated with abnormal intramitochondrial iron handling...
  7. De Biase I, Chutake Y, Rindler P, Bidichandani S. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS ONE. 2009;4:e7914 pubmed publisher
    Over 15 inherited diseases are caused by expansion of triplet-repeats. Friedreich ataxia (FRDA) patients are homozygous for an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene...
  8. Greene E, Mahishi L, Entezam A, Kumari D, Usdin K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007;35:3383-90 pubmed
    Friedreich ataxia (FRDA), the most common hereditary ataxia, is caused by mutations in the frataxin (FXN) gene...
  9. Shan Y, Schoenfeld R, Hayashi G, Napoli E, Akiyama T, Iodi Carstens M, et al. 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;19:1481-93 pubmed publisher
    ..at the transcript and protein level in both the DRG and the cerebella of the YG8R hemizygous mouse; further, frataxin expression was significantly correlated with Nrf2 expression...

More Information

Publications75

  1. Koeppen A, Mazurkiewicz J. Friedreich ataxia: neuropathology revised. J Neuropathol Exp Neurol. 2013;72:78-90 pubmed publisher
    ..consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome-encoded mitochondrial protein...
  2. Schulz T, Thierbach R, Voigt A, Drewes G, Mietzner B, Steinberg P, et al. Induction of oxidative metabolism by mitochondrial frataxin inhibits cancer growth: Otto Warburg revisited. J Biol Chem. 2006;281:977-81 pubmed
    ..We have stably overexpressed the Friedreich ataxia-associated protein frataxin in several colon cancer cell lines...
  3. Groh M, Lufino M, Wade Martins R, Gromak N. R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet. 2014;10:e1004318 pubmed publisher
    Friedreich ataxia (FRDA) and Fragile X syndrome (FXS) are among 40 diseases associated with expansion of repeated sequences (TREDs)...
  4. Li K, Besse E, Ha D, Kovtunovych G, Rouault T. Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum Mol Genet. 2008;17:2265-73 pubmed publisher
    ..disease caused by expansion of a trinucleotide repeat within the first intron of the gene that encodes frataxin. In our study, we investigated the regulation of frataxin expression by iron and demonstrated that frataxin mRNA ..
  5. Burnett R, Melander C, Puckett J, Son L, Wells R, Dervan P, et al. DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia. Proc Natl Acad Sci U S A. 2006;103:11497-502 pubmed
    ..TTC triplet repeat in the first intron of the frataxin gene. Expanded GAA...
  6. Jiralerspong S, Liu Y, Montermini L, Stifani S, Pandolfo M. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis. 1997;4:103-13 pubmed
    ..disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene...
  7. Al Mahdawi S, Pinto R, Ismail O, Varshney D, Lymperi S, Sandi C, et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet. 2008;17:735-46 pubmed
    ..by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein...
  8. Al Mahdawi S, Pook M, Chamberlain S. A novel missense mutation (L198R) in the Friedreich's ataxia gene. Hum Mutat. 2000;16:95 pubmed
  9. Yoon T, Cowan J. Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. J Am Chem Soc. 2003;125:6078-84 pubmed
    ..The identity of the iron donor has thus far not been established. In this paper we demonstrate human frataxin to bind from six to seven iron ions...
  10. O Neill H, Gakh O, Isaya G. Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region. J Mol Biol. 2005;345:433-9 pubmed
    The mitochondrial protein frataxin is emerging as a novel mechanism to promote iron metabolism while also providing anti-oxidant protection...
  11. Wilson R, Roof D. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet. 1997;16:352-7 pubmed
    ..have point mutations or trinucleotide repeat expansions in both alleles of FRDA, which encodes a protein termed frataxin. We show that the yeast frataxin homologue, which we have named YFH1, localizes to mitochondria and is required ..
  12. Bulteau A, O Neill H, Kennedy M, Ikeda Saito M, Isaya G, Szweda L. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science. 2004;305:242-5 pubmed
    ..Deficiency in the mitochondrial iron-binding protein frataxin results in diminished activity of various mitochondrial iron-sulfur proteins including aconitase...
  13. Acquaviva F, De Biase I, Nezi L, Ruggiero G, Tatangelo F, Pisano C, et al. 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;118:3917-24 pubmed
    ..ataxia is a recessive neurodegenerative disease due to insufficient expression of the mitochondrial protein frataxin. Although it has been shown that frataxin is involved in the control of intracellular iron metabolism, by ..
  14. Shan Y, Napoli E, Cortopassi G. Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. Hum Mol Genet. 2007;16:929-41 pubmed
    The neurodegenerative disorder Friedreich's ataxia (FRDA) is caused by mutations in frataxin, a mitochondrial protein whose function remains controversial...
  15. Pollard L, Sharma R, Gomez M, Shah S, Delatycki M, Pianese L, et al. Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res. 2004;32:5962-71 pubmed
    Friedreich ataxia is caused by the expansion of a polymorphic and unstable GAA triplet repeat in the FRDA gene, but the mechanisms for its instability are poorly understood...
  16. Duby G, Foury F, Ramazzotti A, Herrmann J, Lutz T. A non-essential function for yeast frataxin in iron-sulfur cluster assembly. Hum Mol Genet. 2002;11:2635-43 pubmed
    Friedreich's ataxia is caused by a deficit in frataxin, a small mitochondrial protein of unknown function that has been conserved during evolution...
  17. Adinolfi S, Trifuoggi M, Politou A, Martin S, Pastore A. A structural approach to understanding the iron-binding properties of phylogenetically different frataxins. Hum Mol Genet. 2002;11:1865-77 pubmed
    ..ataxia (FRDA), an autosomal recessive cardio- and neurodegenerative disease, is caused by low expression of frataxin, a small mitochondrial protein, encoded in the nucleus...
  18. Chutake Y, Costello W, Lam C, Bidichandani S. Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia. J Biol Chem. 2014;289:15194-202 pubmed publisher
    Most individuals with Friedreich ataxia (FRDA) are homozygous for an expanded GAA triplet repeat (GAA-TR) mutation in intron 1 of the FXN gene, which results in deficiency of FXN transcript...
  19. Anderson P, Kirby K, Hilliker A, Phillips J. RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila. Hum Mol Genet. 2005;14:3397-405 pubmed
    The mitochondrial iron chaperone, frataxin, plays a critical role in cellular iron homeostasis and the synthesis and regeneration of Fe-S centers...
  20. Musco G, Stier G, Kolmerer B, Adinolfi S, Martin S, Frenkiel T, et al. Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin. Structure. 2000;8:695-707 pubmed
    Lesions in the gene for frataxin, a nuclear-encoded mitochondrial protein, cause the recessively inherited condition Friedreich's ataxia...
  21. Schmucker S, Martelli A, Colin F, Page A, Wattenhofer Donzé M, Reutenauer L, et al. Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex. PLoS ONE. 2011;6:e16199 pubmed publisher
    b>Frataxin, the mitochondrial protein deficient in Friedreich ataxia, a rare autosomal recessive neurodegenerative disorder, is thought to be involved in multiple iron-dependent mitochondrial pathways...
  22. Kim E, Napierala M, Dent S. Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucleic Acids Res. 2011;39:8366-77 pubmed publisher
    ..ataxia (FRDA) is caused by biallelic expansion of GAA repeats leading to the transcriptional silencing of the frataxin (FXN) gene. The exact molecular mechanism of inhibition of FXN expression is unclear...
  23. Branda S, Cavadini P, Adamec J, Kalousek F, Taroni F, Isaya G. Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. J Biol Chem. 1999;274:22763-9 pubmed
    b>Frataxin is a nuclear-encoded mitochondrial protein which is deficient in Friedreich's ataxia, a hereditary neurodegenerative disease...
  24. Condo I, Ventura N, Malisan F, Rufini A, Tomassini B, Testi R. In vivo maturation of human frataxin. Hum Mol Genet. 2007;16:1534-40 pubmed
    The defective expression of frataxin causes the hereditary neurodegenerative disorder Friedreich's ataxia (FRDA)...
  25. Yoon T, Dizin E, Cowan J. N-terminal iron-mediated self-cleavage of human frataxin: regulation of iron binding and complex formation with target proteins. J Biol Inorg Chem. 2007;12:535-42 pubmed
    b>Frataxin is an iron-binding mitochondrial matrix protein that has been shown to mediate iron delivery during iron-sulfur cluster and heme biosynthesis...
  26. De Biase I, Rasmussen A, Endres D, Al Mahdawi S, Monticelli A, Cocozza S, et al. Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol. 2007;61:55-60 pubmed
    ..The selective neurodegeneration is due to the sensitivity of DRGs to frataxin deficiency; however, the progressive nature of the disease remains unexplained...
  27. Schmucker S, Argentini M, Carelle Calmels N, Martelli A, Puccio H. The in vivo mitochondrial two-step maturation of human frataxin. Hum Mol Genet. 2008;17:3521-31 pubmed publisher
    Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy...
  28. Rufini A, Fortuni S, Arcuri G, Condo I, Serio D, Incani O, et al. Preventing the ubiquitin-proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia. Hum Mol Genet. 2011;20:1253-61 pubmed publisher
    ..The disease is caused by reduced expression of the protein frataxin, which results in mitochondrial defects and oxidative damage...
  29. Baralle M, Pastor T, Bussani E, Pagani F. Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am J Hum Genet. 2008;83:77-88 pubmed publisher
    The intronic GAA repeat expansion in the frataxin (FXN) gene causes the hereditary neurodegenerative disorder Friedreich ataxia...
  30. Cavadini P, Adamec J, Taroni F, Gakh O, Isaya G. Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates. J Biol Chem. 2000;275:41469-75 pubmed
    We showed previously that maturation of the human frataxin precursor (p-fxn) involves two cleavages by the mitochondrial processing peptidase (MPP)...
  31. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 1997;6:1771-80 pubmed
    Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene...
  32. Condo I, Malisan F, Guccini I, Serio D, Rufini A, Testi R. Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. Hum Mol Genet. 2010;19:1221-9 pubmed publisher
    The inability to produce normal levels of the mitochondrial protein frataxin causes the hereditary degenerative disorder Friedreich's Ataxia (FRDA), a syndrome characterized by progressive gait instability, cardiomyopathy and high ..
  33. Cavadini P, O Neill H, Benada O, Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum Mol Genet. 2002;11:217-27 pubmed
    Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused by a deficiency of frataxin, a conserved mitochondrial protein of unknown function...
  34. O Neill H, Gakh O, Park S, Cui J, Mooney S, Sampson M, et al. Assembly of human frataxin is a mechanism for detoxifying redox-active iron. Biochemistry. 2005;44:537-45 pubmed
    ..The mitochondrial protein frataxin plays a key role in these processes by a novel mechanism that remains to be fully elucidated...
  35. Dhe Paganon S, Shigeta R, Chi Y, Ristow M, Shoelson S. Crystal structure of human frataxin. J Biol Chem. 2000;275:30753-6 pubmed
    ..characterized by progressive gait and limb ataxia, cardiomyopathy, and diabetes mellitus, is caused by decreased frataxin production or function. The structure of human frataxin, which we have determined at 1...
  36. Anzovino A, Lane D, Huang M, Richardson D. Fixing frataxin: 'ironing out' the metabolic defect in Friedreich's ataxia. Br J Pharmacol. 2014;171:2174-90 pubmed publisher
    ..b>Frataxin, a mitochondrial matrix protein, has been identified as playing a key role in the iron metabolism of this ..
  37. Acquaviva F, Castaldo I, Filla A, Giacchetti M, Marmolino D, Monticelli A, et al. Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression. Cerebellum. 2008;7:360-5 pubmed publisher
    Friedreich's ataxia is an autosomal recessive neurodegenerative disease that is due to the loss of function of the frataxin protein...
  38. Juvonen V, Kulmala S, Ignatius J, Penttinen M, Savontaus M. Dissecting the epidemiology of a trinucleotide repeat disease - example of FRDA in Finland. Hum Genet. 2002;110:36-40 pubmed
    Friedreich ataxia (FRDA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the frataxin (X25) gene...
  39. Al Mahdawi S, Sandi C, Mouro Pinto R, Pook M. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PLoS ONE. 2013;8:e74956 pubmed publisher
    Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, which induces epigenetic changes and FXN gene silencing...
  40. Mahishi L, Hart R, Lynch D, Ratan R. miR-886-3p levels are elevated in Friedreich ataxia. J Neurosci. 2012;32:9369-73 pubmed publisher
    ..TTC triplet repeat expansion in the frataxin (FXN) gene...
  41. Pastore A, Puccio H. Frataxin: a protein in search for a function. J Neurochem. 2013;126 Suppl 1:43-52 pubmed publisher
    Reduced levels of the protein frataxin cause the neurodegenerative disease Friedreich's ataxia. Pathology is associated with disruption of iron-sulfur cluster biosynthesis, mitochondrial iron overload, and oxidative stress...
  42. Evans Galea M, Carrodus N, Rowley S, Corben L, Tai G, Saffery R, et al. FXN methylation predicts expression and clinical outcome in Friedreich ataxia. Ann Neurol. 2012;71:487-97 pubmed publisher
    ..This leads to epigenetic modifications and reduced frataxin. We investigated the relationships between genetic, epigenetic, and clinical parameters in a large case-control ..
  43. Saccà F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS ONE. 2011;6:e17627 pubmed publisher
    ..molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and ..
  44. Plasterer H, Deutsch E, Belmonte M, Egan E, Lynch D, Rusche J. Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia. PLoS ONE. 2013;8:e63958 pubmed publisher
    ..repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein...
  45. Cossee M, Durr A, Schmitt M, Dahl N, Trouillas P, Allinson P, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol. 1999;45:200-6 pubmed
    ..Ninety-six percent of patients are homozygous for GAA trinucleotide repeat expansions in the first intron of the frataxin gene. The remaining cases are compound heterozygotes for a GAA expansion and a frataxin point mutation...
  46. Lu C, Schoenfeld R, Shan Y, Tsai H, Hammock B, Cortopassi G. Frataxin deficiency induces Schwann cell inflammation and death. Biochim Biophys Acta. 2009;1792:1052-61 pubmed publisher
    Mutations in the frataxin gene cause dorsal root ganglion demyelination and neurodegeneration, which leads to Friedreich's ataxia...
  47. Campuzano V, Montermini L, Molto M, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423-7 pubmed
    ..This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast...
  48. Correia A, Adinolfi S, Pastore A, Gomes C. Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding. Biochem J. 2006;398:605-11 pubmed
    The neurodegenerative disorder FRDA (Friedreich's ataxia) results from a deficiency in frataxin, a putative iron chaperone, and is due to the presence of a high number of GAA repeats in the coding regions of both alleles of the frataxin ..
  49. Stehling O, Elsässer H, Brückel B, Muhlenhoff U, Lill R. Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Hum Mol Genet. 2004;13:3007-15 pubmed
    ..the RNA interference (RNAi) technology was used to deplete a potential component of Fe/S protein maturation, frataxin, in human HeLa cells...
  50. Prischi F, Giannini C, Adinolfi S, Pastore A. The N-terminus of mature human frataxin is intrinsically unfolded. FEBS J. 2009;276:6669-76 pubmed publisher
    b>Frataxin is a highly conserved nuclear-encoded mitochondrial protein whose deficiency is the primary cause of Friedreich's ataxia, an autosomal recessive neurodegenerative disease...
  51. Correia A, Pastore C, Adinolfi S, Pastore A, Gomes C. Dynamics, stability and iron-binding activity of frataxin clinical mutants. FEBS J. 2008;275:3680-90 pubmed publisher
    Friedreich's ataxia results from a deficiency in the mitochondrial protein frataxin, which carries single point mutations in some patients...
  52. Clark R, Dalgliesh G, Endres D, Gomez M, Taylor J, Bidichandani S. Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics. 2004;83:373-83 pubmed
    Friedreich ataxia is caused by expansion of a GAA triplet repeat (GAA-TR) in the FRDA gene...
  53. Forrest S, Knight M, Delatycki M, Paris D, Williamson R, King J, et al. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics. 1998;1:253-7 pubmed
    ..Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport...
  54. Tsai C, Barondeau D. Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex. Biochemistry. 2010;49:9132-9 pubmed publisher
    Cellular depletion of the human protein frataxin is correlated with the neurodegenerative disease Friedreich's ataxia and results in the inactivation of Fe-S cluster proteins...
  55. Marmolino D, Acquaviva F, Pinelli M, Monticelli A, Castaldo I, Filla A, et al. PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy. Cerebellum. 2009;8:98-103 pubmed publisher
    Friedreich's ataxia is a neurodegenerative disease due to frataxin deficiency, and thus, drugs increasing the frataxin amount are excellent candidates for therapy...
  56. Babcock M, de Silva D, Oaks R, Davis Kaplan S, Jiralerspong S, Montermini L, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 1997;276:1709-12 pubmed
    ..characterized by neurodegeneration and cardiomyopathy, has recently been cloned and its product designated frataxin. A gene in Saccharomyces cerevisiae was characterized whose predicted protein product has high sequence ..
  57. Chattopadhyay B, Gupta S, Gangopadhyay P, Das S, Roy T, Mukherjee S, et al. Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India. Ann Hum Genet. 2004;68:189-95 pubmed
    ..Homozygous expansion of GAA repeats in the first intron of the frataxin gene constitute the major type of mutation that causes the disease...
  58. Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, DiDonato S, et al. Frataxin gene point mutations in Italian Friedreich ataxia patients. Neurogenetics. 2007;8:289-99 pubmed
    ..expansion in the first intron of the FXN gene (9q13-21), which encodes a 210-amino-acid protein named frataxin. More than 95% of patients are homozygous for 90-1,300 repeat expansion on both alleles...
  59. Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet. 1997;17:215-7 pubmed
    ..3) and encodes a 210-amino-acid protein, frataxin. FRDA is caused primarily by a GAA repeat expansion within the first intron of the frataxin gene, which accounts ..
  60. Long S, Jirku M, Ayala F, Lukes J. 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;105:13468-73 pubmed publisher
    ..It is evolutionarily very distant from humans, with a last common ancestor over 1 billion years ago. Frataxin, a highly conserved small protein involved in iron-sulfur cluster synthesis, is present in both organisms, and ..
  61. Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, et al. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet. 2008;45:808-12 pubmed publisher
    The most frequent mutation of Friedreich ataxia (FRDA) is the abnormal expansion of a GAA repeat located within the first intron of FXN gene. It is known that the length of GAA is directly correlated with disease severity...
  62. Marmolino D. Friedreich's ataxia: past, present and future. Brain Res Rev. 2011;67:311-30 pubmed publisher
    ..Patients show severely reduced levels of a FXN-encoded mitochondrial protein called frataxin. Frataxin deficiency is associated with abnormalities of iron metabolism: decreased iron-sulfur cluster (ISC) ..
  63. Gakh O, Bedekovics T, Duncan S, Smith D, Berkholz D, Isaya G. Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly. J Biol Chem. 2010;285:38486-501 pubmed publisher
    Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused by insufficient expression of frataxin (FXN), a mitochondrial iron-binding protein required for Fe-S cluster assembly...
  64. Boehm T, Scheiber Mojdehkar B, Kluge B, Goldenberg H, Laccone F, Sturm B. Variations of frataxin protein levels in normal individuals. Neurol Sci. 2011;32:327-30 pubmed publisher
    ..the inherited ataxias and is associated with GAA trinucleotide repeat expansions within the first intron of the frataxin (FXN) gene...
  65. Huang J, Dizin E, Cowan J. Mapping iron binding sites on human frataxin: implications for cluster assembly on the ISU Fe-S cluster scaffold protein. J Biol Inorg Chem. 2008;13:825-36 pubmed publisher
    b>Frataxin is an iron binding mitochondrial matrix protein that has been shown to mediate iron delivery during iron-sulfur cluster and heme biosynthesis...
  66. Lu C, Cortopassi G. Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts. Arch Biochem Biophys. 2007;457:111-22 pubmed
    b>Frataxin protein deficiency causes the neurodegenerative disease Friedreich ataxia. We used inducible siRNA to order the consequences of frataxin deficiency that we and others have previously observed...