| 1 | FRDA, FXN, HAX1
|
| Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival
|
| Tiano F, Amati F, Cherubini F, Morini E, Vancheri C, Maletta S, Fortuni S, Serio D, Quatrana A, Luffarelli R, Benini M, Alfedi G, Panarello L, Rufini A, Toschi N, Frontali M, Romano S, Marcotulli C, Casali C, Gioiosa S, Mariotti C, Mongelli A, Fichera M, Condò I, Novelli G, Testi R, Malisan F.
|
| Hum Mol Genet. Feb 1;29(3):471-482. doi: 10.1093/hmg/ddz306. 2020
|
| 2 | FXN, PITRM1
|
| Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
|
| Nabhan JF, Gooch RL, Piatnitski Chekler EL, Pierce B, Bulawa CE.
|
| Sci Rep 5:18251. doi: 10.1038/srep18251.
2015
|
| 3 | FRDA, FXN
|
| Frataxin knockdown in human astrocytes triggers cell death and the release of factors that cause neuronal toxicity.
|
| Loría F, Díaz-Nido J.
|
| Neurobiol Dis 76C:1-12. doi: 10.1016/j.nbd.2014.12.017. [Epub ahead of print]
2014
|
| 4 | FRDA, FXN
|
| Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.
|
| Chutake YK, Lam C, Costello WN, Anderson M, Bidichandani SI.
|
| Ann Neurol 76(4):522-8. doi: 10.1002/ana.24249. Epub 2014 Aug 30.
2014
|
| 5 | FXN, ISCU, NFS1
|
| Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.
|
| Bridwell-Rabb J, Fox NG, Tsai CL, Winn AM, Barondeau DP.
|
| Biochemistry 53(30):4904-13. doi: 10.1021/bi500532e. Epub 2014 Jul 18.
2014
|
| 6 | FXN
|
| The alteration of the C-terminal region of human frataxin distorts its structural dynamics and function.
|
| Faraj SE, Roman EA, Aran M, Gallo M, Santos J.
|
| FEBS J 281(15):3397-419. doi: 10.1111/febs.12869. Epub 2014 Jul 1.
2014
|
| 7 | FXN
|
| Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism.
|
| Bolinches-Amorós A, Mollá B, Pla-Martín D, Palau F, González-Cabo P.
|
| Front Cell Neurosci 8:124. doi: 10.3389/fncel.2014.00124. eCollection 2014.
2014
|
| 8 | FRDA, FXN
|
| Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
|
| Li H, Gakh O, Smith DY 4th, Ranatunga WK, Isaya G.
|
| J Biol Chem 288(6):4116-27. doi: 10.1074/jbc.M112.435263. Epub 2012 Dec 26.
2013
|
| 9 | FRDA, FXN
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| Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
|
| Saccà F, Marsili A, Puorro G, Antenora A, Pane C, Tessa A, Scoppettuolo P, Nesti C, Brescia Morra V, De Michele G, Santorelli FM, Filla A.
|
| J Neurol 260(4):1116-21. doi: 10.1007/s00415-012-6770-5. Epub 2012 Nov 30.
2013
|
| 10 | FRDA, FXN
|
| Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3
|
| Chan PK, Torres R, Yandim C, Law PP, Khadayate S, Mauri M, Grosan C, Chapman-Rothe N, Giunti P, Pook M, Festenstein R.
|
| Hum Mol Genet. Jul 1;22(13):2662-75. doi: 10.1093/hmg/ddt115. Epub 2013 Mar 7. 2013
|
| 11 | FXN, HSCB, HSPA9, ISCU
|
| HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis.
|
| Shan Y, Cortopassi G.
|
| Hum Mol Genet 21(7):1457-69. doi: 10.1093/hmg/ddr582. Epub 2011 Dec 13.
2012
|
| 12 | FXN, IFNG
|
| Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model.
|
| Tomassini B, Arcuri G, Fortuni S, Sandi C, Ezzatizadeh V, Casali C, Condò I, Malisan F, Al-Mahdawi S, Pook M, Testi R.
|
| Hum Mol Genet 21(13):2855-61. doi: 10.1093/hmg/dds110. Epub 2012 Mar 23.
2012
|
| 13 | FXN
|
| Protein stability and dynamics modulation: the case of human frataxin.
|
| Roman EA, Faraj SE, Gallo M, Salvay AG, Ferreiro DU, Santos J.
|
| PLoS One 7(9):e45743. doi: 10.1371/journal.pone.0045743. Epub 2012 Sep 25.
2012
|
| 14 | FXN
|
| Effector role reversal during evolution: the case of frataxin in Fe-S cluster biosynthesis.
|
| Bridwell-Rabb J, Iannuzzi C, Pastore A, Barondeau DP.
|
| Biochemistry 51(12):2506-14. doi: 10.1021/bi201628j. Epub 2012 Mar 15.
2012
|
| 15 | FXN
|
| Preventing the ubiquitin-proteasome-dependent degradation of frataxin, the protein defective in Friedreich's ataxia.
|
| Rufini A, Fortuni S, Arcuri G, Condò I, Serio D, Incani O, Malisan F, Ventura N, Testi R.
|
| Hum Mol Genet 20(7):1253-61. Epub 2011 Jan 7.
2011
|
| 16 | FRDA, FXN
|
| Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells.
|
| Palomo GM, Cerrato T, Gargini R, Diaz-Nido J.
|
| Hum Mol Genet 20(14):2807-22. Epub 2011 Apr 29.
2011
|
| 17 | FRDA, FXN
|
| Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex.
|
| Bridwell-Rabb J, Winn AM, Barondeau DP.
|
| Biochemistry 50(33):7265-74. Epub 2011 Aug 2.
2011
|
| 18 | FXN
|
| Frataxin participates to the hypoxia-induced response in tumors.
|
| Guccini I, Serio D, Condò I, Rufini A, Tomassini B, Mangiola A, Maira G, Anile C, Fina D, Pallone F, Mongiardi MP, Levi A, Ventura N, Testi R, Malisan F.
|
| Cell Death Dis 2:e123. doi: 10.1038/cddis.2011.5.
2011
|
| 19 | FRDA, FXN
|
| Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology.
|
| Haugen AC, Di Prospero NA, Parker JS, Fannin RD, Chou J, Meyer JN, Halweg C, Collins JB, Durr A, Fischbeck K, Van Houten B.
|
| PLoS Genet 6(1):e1000812.PMID: 20090835 2010
|
| 20 | ACO1, FRDA, FXN
|
| Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.
|
| Condò I, Malisan F, Guccini I, Serio D, Rufini A, Testi R.
|
| Hum Mol Genet 19(7):1221-9. Epub 2010 Jan 6.
2010
|
| 21 | ABCB7, ASAT, ASPR2, FRDA, FXN, GLRX5, ISCU, MPEI1
|
| Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
|
| Ye H, Rouault TA.
|
| Biochemistry 49(24):4945-56. Review. 2010
|
| 22 | FXN, ISCU, LYRM4, NFS1
|
| Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
|
| Tsai CL, Barondeau DP.
|
| Biochemistry 49(43):9132-9.
2010
|
| 23 | FXN
|
| The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals.
|
| Thierbach R, Drewes G, Fusser M, Voigt A, Kuhlow D, Blume U, Schulz TJ, Reiche C, Glatt H, Epe B, Steinberg P, Ristow M.
|
| Biochem J. 432(1):165-72. 2010
|
| 24 | FXN
|
| The N-terminus of mature human frataxin is intrinsically unfolded.
|
| Prischi F, Giannini C, Adinolfi S, Pastore A.
|
| FEBS J 276(22):6669-76. Epub 2009 Oct 16.PMID: 19843162 2009
|
| 25 | FRDA, FXN
|
| Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.
|
| Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA.
|
| Hum Mol Genet 17(15):2265-73. Epub 2008 Apr 17.
2008
|
| 26 | FXN
|
| DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.
|
| Castaldo I, Pinelli M, Monticelli A, Acquaviva F, Giacchetti M, Filla A, Sacchetti S, Keller S, Avvedimento VE, Chiariotti L, Cocozza S.
|
| J Med Genet 45(12):808-12. Epub 2008 Aug 12.
2008
|
| 27 | FXN
|
| The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin.
|
| Zanella I, Derosas M, Corrado M, Cocco E, Cavadini P, Biasiotto G, Poli M, Verardi R, Arosio P.
|
| Biochim Biophys Acta. 1782(2):90-8. 2008
|
| 28 | FXN
|
| Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia.
|
| Anderson PR, Kirby K, Orr WC, Hilliker AJ, Phillips JP.
|
| Proc Natl Acad Sci U S A. 105(2):611-6. 2008
|
| 29 | FXN, LYRM4, FRDA, HSPA9
|
| Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
|
| Shan Y, Napoli E, Cortopassi G.
|
| Hum Mol Genet 16(8):929-41. Epub 2007 Mar 1. 2007
|
| 30 | FXN
|
| Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.
|
| Martelli A, Wattenhofer-DonzŽ M, Schmucker S, Bouvet S, Reutenauer L, Puccio H.
|
| Hum Mol Genet 16(22):2651-8. Epub 2007 Jun 27. 2007
|
| 31 | FXN
|
| Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity.
|
| Gakh O, Park S, Liu G, Macomber L, Imlay JA, Ferreira GC, Isaya G.
|
| Hum Mol Genet 15(3):467-79. Epub 2005 Dec 21. 2006
|
| 32 | FXN
|
| A pool of extramitochondrial frataxin that promotes cell survival.
|
| Condò I, Ventura N, Malisan F, Tomassini B, Testi R.
|
| J Biol Chem. 281(24):16750-6. 2006
|
| 33 | FRDA, FXN
|
| Friedreich ataxia: the oxidative stress paradox.
|
| Seznec H, Simon D, Bouton C, Reutenauer L, Hertzog A, Golik P, Procaccio V, Patel M, Drapier JC, Koenig M, Puccio H.
|
| Hum Mol Genet 14(4):463-74. Epub 2004 Dec 22. 2005
|
| 34 | FXN
|
| Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes.
|
| Holmkvist J, Almgren P, Parikh H, Zucchelli M, Kere J, Groop L, Lindgren CM.
|
| Eur J Hum Genet 13(7):849-55. 2005
|
| 35 | FXN, SDHB, SDHA
|
| Frataxin interacts functionally with mitochondrial electron transport chain proteins.
|
| Gonzalez-Cabo P, Vazquez-Manrique RP, Garcia-Gimeno MA, Sanz P, Palau F.
|
| Hum Mol Genet 14(15):2091-8. Epub 2005 Jun 16. 2005
|
| 36 | MTCP1, FXN, FRDA
|
| Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
|
| Schoenfeld RA, Napoli E, Wong A, Zhan S, Reutenauer L, Morin D, Buckpitt AR, Taroni F, Lonnerdal B, Ristow M, Puccio H, Cortopassi GA.
|
| Hum Mol Genet 14(24):3787-99. Epub 2005 Oct 20. 2005
|
| 37 | WRS, EIF2AK3, SLC19A2, TRMA, FRDA, FXN, ABCC8
|
| Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
|
| Porter JR, Barrett TG.
|
| J Med Genet 42(12):893-902. Epub 2005 Mar 16. 2005
|
| 38 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
|
| Diseases of unstable repeat expansion: mechanisms and common principles.
|
| Gatchel JR, Zoghbi HY.
|
| Nat Rev Genet 6(10):743-55. Review. 2005
|
| 39 | FXN
|
| Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.
|
| Thierbach R, Schulz TJ, Isken F, Voigt A, Mietzner B, Drewes G, von Kleist-Retzow JC, Wiesner RJ, Magnuson MA, Puccio H, Pfeiffer AF, Steinberg P, Ristow M.
|
| Hum Mol Genet. 14(24):3857-64. 2005
|
| 40 | FXN
|
| RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila.
|
| Anderson PR, Kirby K, Hilliker AJ, Phillips JP.
|
| Hum Mol Genet. 14(22):3397-405. 2005
|
| 41 | FXN
|
| Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.
|
| Clark RM, Dalgliesh GL, Endres D, Gomez M, Taylor J, Bidichandani SI.
|
| Genomics 83(3):373-83. 2004
|
| 42 | FXN
|
| New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.
|
| Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, Cocozza S.
|
| Hum Genet 114(5):458-63. Epub 2004 Feb 07. 2004
|
| 43 | FXN
|
| Molecular Analysis of GAA Repeats and Four Linked Bi-allelic Markers in and Around the Frataxin Gene in Patients and Normal Populations from India.
|
| Chattopadhyay B, Gupta S, Gangopadhyay PK, Das SK, Roy T, Mukherjee SC, Sinha KK, Singhal BS, Bhattacharyya NP.
|
| Ann Hum Genet 68(Pt 3):189-95. 2004
|
| 44 | FXN
|
| Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.
|
| Bulteau AL, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, Szweda LI.
|
| Science 305(5681):242-5. 2004
|
| 45 | FXN, FTMT
|
| The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast.
|
| Campanella A, Isaya G, O'Neill HA, Santambrogio P, Cozzi A, Arosio P, Levi S.
|
| Hum Mol Genet 13(19):2279-88. Epub 2004 Jul 28. 2004
|
| 46 | FXN
|
| Iron-sulfur protein maturation in human cells: evidence for a function of frataxin.
|
| Stehling O, Elsasser HP, Bruckel B, Muhlenhoff U, Lill R.
|
| Hum Mol Genet 13(23):3007-15. Epub 2004 Oct 27. 2004
|
| 47 | FXN
|
| Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.
|
| Yoon T, Cowan JA.
|
| J Biol Chem. 279(25):25943-6. 2004
|
| 48 | FXN
|
| Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia.
|
| Seznec H, Simon D, Monassier L, Criqui-Filipe P, Gansmuller A, Rustin P, Koenig M, Puccio H.
|
| Hum Mol Genet. 13(10):1017-24. 2004
|
| 49 | ACO2, FXN
|
| Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.
|
| Bulteau AL, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, Szweda LI.
|
| Science 305(5681):242-5.
2004
|
| 50 | FXN
|
| Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.
|
| Cavadini P, O'Neill HA, Benada O, Isaya G.
|
| Hum Mol Genet 11(3):217-27. 2002
|
| 51 | FXN
|
| The mitochondrial protein frataxin prevents nuclear damage.
|
| Karthikeyan G, Lewis LK, Resnick MA.
|
| Hum Mol Genet 11(11):1351-62. 2002
|
| 52 | FXN
|
| Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia.
|
| Pianese L, Tammaro A, Turano M, De Biase I, Monticelli A, Cocozza S.
|
| Neurosci Lett 320(3):137-40. 2002
|
| 53 | FXN
|
| Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
|
| Patel PI, Isaya G.
|
| Am J Hum Genet 69(1):15-24. Review. No abstract available. 2001
|
| 54 | FXN
|
| Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm.
|
| Santos MM, Ohshima K, Pandolfo M.
|
| Hum Mol Genet 10(18):1935-44. 2001
|
| 55 | FXN
|
| Frataxin expression rescues mitochondrial dysfunctions in FRDA cells.
|
| Tan G, Chen LS, Lonnerdal B, Gellera C, Taroni FA, Cortopassi GA.
|
| Hum Mol Genet 10(19):2099-107. 2001
|
| 56 | FXN
|
| Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia.
|
| Becker E, Richardson DR.
|
| Int J Biochem Cell Biol 33(1):1-10. Review. 2001
|
| 57 | FXN
|
| Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
|
| Puccio H, Simon D, Cossée M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M.
|
| Nat Genet. 27(2):181-6. 2001
|
| 58 | FXN
|
| Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.
|
| Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH.
|
| Hum Mol Genet 9(2):275-82 2000
|
| 59 | FXN
|
| Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.
|
| De Castro M, Garcia-Planells J, Monros E, Canizares J, Vazquez-Manrique R, Vilchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Molto MD, Palau F.
|
| Hum Genet 106:86-92 2000
|
| 60 | FXN
|
| Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
|
| Ristow M, Pfister MF, Yee AJ, Schubert M, Michael L, Zhang CY, Ueki K, Michael MD 2nd, Lowell BB, Kahn CR.
|
| Proc Natl Acad Sci U S A 97(22):12239-43. 2000
|
| 61 | FXN
|
| Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.
|
| Hebinck J, Hardt C, Schols L, Vorgerd M, Briedigkeit L, Kahn CR, Ristow M.
|
| Diabetes 49(9):1604-7. 2000
|
| 62 | FXN
|
| Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
|
| Cossée M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dollé P, Koenig M.
|
| Hum Mol Genet. 9(8):1219-26. 2000
|
| 63 | FXN
|
| The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
|
| Wong A, et al.
|
| Hum Mol Genet 8 : 425-430. 1999
|
| 64 | FXN
|
| Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
|
| Cossee M, et al.
|
| Ann Neurol 45(2):200-6. 1999
|
| 65 | FXN
|
| G130V, a common FRDA point mutation, appears to have arisen from a common founder.
|
| Delatycki MB, et al.
|
| Hum Genet 105(4):343-6 1999
|
| 66 | FXN
|
| Friedreich's ataxia is a mitochondrial disorder.
|
| Kaplan J.
|
| Proc Natl Acad Sci U S A 96(20):10948-9. No abstract available 1999
|
| 67 | FXN
|
| Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.
|
| Gordon DM, et al.
|
| Hum Mol Genet 8(12):2255-2262 1999
|
| 68 | FXN
|
| The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
|
| Bidichandani SI, Ashizawa T, Patel PI.
|
| Am J Hum Genet 62(1):111-21. 1998
|
| 69 | FXN
|
| Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the friedreich ataxia gene on transcription and replication in vivo.
|
| Ohshima K, et al.
|
| J Biol Chem 273 : 14588-14595. 1998
|
| 70 | FXN
|
| 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.
|
| ZŸhlke C, et al.
|
| Hum Genet 103 : 102-105. 1998
|
| 71 | FXN
|
| Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.
|
| Delatycki MB, Paris D, Gardner RJ, Forshaw K, Nicholson GA, Nassif N, Williamson R, Forrest SM.
|
| J Med Genet 35(9):713-6. 1998
|
| 72 | FXN
|
| Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene : pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
|
| De Michele G, et al.
|
| Hum Mol Genet 7 : 1901-1906. 1998
|
| 73 | FXN
|
| Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase.
|
| Koutnikova H, Campuzano V, Koenig M.
|
| Hum Mol Genet. 7(9):1485-9. 1998
|
| 74 | FXN, PIP5K1B
|
| Frataxin fracas.
|
| CossŽe M, et al.
|
| Nat Genet 15 : 337-338. 1997
|
| 75 | FXN, PIP5K1B
|
| Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
|
| Bidichandani SI, Ashizawa T, Patel PI.
|
| Am J Hum Genet 60(5):1251-6. 1997
|
| 76 | FXN
|
| Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
|
| Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melancon SB, Keats BJ, Di Donato S, Pandolfo M.
|
| Ann Neurol 41(5):675-82. 1997
|
| 77 | FXN
|
| Locus heterogeneity in Friedreich ataxia.
|
| Kostrzewa M, et al.
|
| Neurogenetics 1 : 43-47. 1997
|
| 78 | FXN
|
| Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
|
| Cossee M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M.
|
| Proc Natl Acad Sci U S A 94(14):7452-7. 1997
|
| 79 | FXN
|
| The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
|
| Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S.
|
| Hum Mol Genet 6(8):1261-6. 1997
|
| 80 | FXN
|
| Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
|
| Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M.
|
| Nat Genet 16(4):345-51. 1997
|
| 81 | FXN
|
| Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue.
|
| Wilson RB, Roof DM.
|
| Nat Genet 16(4):352-7. 1997
|
| 82 | FXN
|
| Frataxin gene of Friedreich's ataxia is targeted to mitochondria.
|
| Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB.
|
| Ann Neurol 42(2):265-9. 1997
|
| 83 | FXN
|
| Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
|
| Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Durr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M.
|
| Hum Mol Genet 6(11):1771-80. 1997
|
| 84 | ACO2, FXN
|
| Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
|
| Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P.
|
| Nat Genet 17(2):215-7. 1997
|
| 85 | FXN
|
| Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.
|
| Montermini L, Kish SJ, Jiralerspong S, Lamarche JB, Pandolfo M.
|
| Neurology 49(2):606-10. 1997
|
| 86 | FXN
|
| Friedreich's ataxia : autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
|
| Campuzano V, et al.
|
| Science 271 : 1423-1427. 1996
|
| 87 | FXN
|
| A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.
|
| Smeyers P, et al.
|
| Hum Genet 97 : 824-828. 1996
|
| 88 | FXN
|
| Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.
|
| Monros E, et al.
|
| Eur J Hum Genet 4 : 191-198. 1996
|
| 89 | FXN
|
| Friedreich ataxia in Acadian families from Eastern Canada : clinical diversity with conserved haplotypes.
|
| Richter A, et al.
|
| Am J Med Genet 64 : 594-601. 1996
|
| 90 | FXN
|
| The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
|
| Filla A, et al.
|
| Am J Hum Genet 59 : 554-560. 1996
|
| 91 | FXN, PIP5K1B
|
| The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase.
|
| Carvajal JJ, et al.
|
| Nat Genet 14 : 157-162. 1996
|
| 92 | FXN
|
| Clinical and genetic abnormalities in patients with Friedreich's ataxia.
|
| DŸrr A, et al.
|
| N Engl J Med 335 : 1169-1175. 1996
|
| 93 | D9S743E, FXN, PRKACG
|
| The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.
|
| Montermini L, et al.
|
| Am J Hum Genet 57 : 1061-1067. 1995
|
| 94 | FXN
|
| Physical evidence for the position of the Friedreich's ataxia locus FRDAproximal to D9S5.
|
| Hillermann R, et al.
|
| Cytogenet Cell Genet 71 : 214-216. 1995
|
| 95 | FXN, PIP5K1B
|
| Friedreich's ataxia : a defect in signal transduction ?
|
| Carvajal JJ, et al.
|
| Hum Mol Genet 4 : 1411-1419. 1995
|
| 96 | FXN
|
| Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a Central-Southern Italian population.
|
| Pianese L, et al.
|
| J Med Genet 31 : 133-135. 1994
|
| 97 | APBA1, D9S742E, D9S743E, FXN
|
| The Friedreich ataxia region : characterization of two novel genes and reduction of the critical region to 300 kb.
|
| Duclos F, et al.
|
| Hum Mol Genet 3 : 909-914. 1994
|
| 98 | FXN
|
| Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval.
|
| Rodius F, et al.
|
| Am J Hum Genet 54 : 1050-1059. 1994
|
| 99 | FXN
|
| Recombination event at the Friedreich's ataxia (FRDA) locus in a large French-Canadian family positions the FRDA gene centromeric to the X11 gene. (abstr)
|
| Richter A, et al.
|
| Am J Hum Genet 55 : A352. 1994
|
| 100 | FXN
|
| Late onset Friedreich's disease : clinical features and mapping of mutation to the FRDA locus.
|
| De Michele G, et al.
|
| J Neurol Neurosurg Psychiatry 57 : 977-979. 1994
|
| 101 | AOA1, FXN
|
| Linkage analysis of a new syndrome of autosomal recessive early onset ataxia associated with hypoalbuminemia.
|
| Tanaka H, et al.
|
| Am J Hum Genet 53 : 1088. 1993
|
| 102 | FXN
|
| Late-Onset Friedreich's Ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging.
|
| Klockgether T, et al.
|
| Arch Neurol 50 : 803-806. 1993
|
| 103 | FXN, APBA1
|
| Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.
|
| Duclos F, et al.
|
| Proc Natl Acad Sci U S A 90 : 109-113. 1993
|
| 104 | FXN
|
| Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.
|
| Chamberlain S, et al.
|
| Am J Hum Genet 52 : 99-109. 1993
|
| 105 | FXN
|
| A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.
|
| Fujita R, et al.
|
| Hum Genet 89 : 531-538. 1992
|
| 106 | FXN
|
| Genetic recombination events which position the Friedreich's ataxia locus proximal to the D9S15/D9S55 linkage group on chromosome 9q.
|
| Chamberlain S, et al.
|
| Am J Hum Genet 51 : A184. 1992
|
| 107 | FXN
|
| Cloning of a cerebellum expressed transcript located in a segment close to D9S5, a locus tightly linked to the Friedreich ataxia locus.
|
| Duclos F, et al.
|
| Am J Hum Genet 51 : A324. 1992
|
| 108 | FXN
|
| Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.
|
| Belal S, et al.
|
| Am J Hum Genet 51 : 1372-1376. 1992
|
| 109 | FXN
|
| Friedreich ataxia in Louisiana Acadians : demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.
|
| Sirugo G, et al.
|
| Am J Hum Genet 50 : 559-566. 1992
|
| 110 | FXN
|
| Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.
|
| Fujita R, et al.
|
| Genomics 10 : 915-920. 1991
|
| 111 | FXN, D9S15
|
| Recombination events positioning the Friedreich's ataxia locus in close proximity to D9S15.
|
| Chamberlain S, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1936. 1991
|
| 112 | FXN
|
| Two distinct clinical subtypes of autosomal recessive ataxia in the Acadian population of atlantic Canada: linkage to the Friedreich's ataxia (FRDA) gene region on chromosome 9.
|
| Richter AM, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 1943-1944. 1991
|
| 113 | FXN
|
| Identification of CpG islands in a physical map emcompassing the Friedreich's ataxia locus.
|
| Wilkes D, et al.
|
| Genomics 9 : 90-95. 1991
|
| 114 | FXN
|
| Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9.
|
| Raimondi E, et al.
|
| Hum Genet 86 : 525-528. 1991
|
| 115 | FXN
|
| The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
|
| Hanauer A, et al.
|
| Am J Hum Genet 46 : 133-137. 1990
|
| 116 | D9S5, FXN
|
| Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus.
|
| Raimondi E, et al.
|
| Hum Genet 85 : 125-126. 1990
|
| 117 | FXN, D9S15
|
| Identification of a hypervariable microsatellite polymorphism within D9S15 tightly linked to Friedreich's ataxia.
|
| Wallis J, et al.
|
| Hum Genet 85 : 98-100. 1990
|
| 118 | FXN
|
| Friedreich ataxia in Italian families : genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15.
|
| Pandolfo M, et al.
|
| Am J Hum Genet 47 : 228-235. 1990
|
| 119 | FXN, D9S48
|
| Regional localisation of the Friedreich ataxia locus to human chromosome 9q13-q21.1.
|
| Shaw J, et al.
|
| Cytogenet Cell Genet 53 : 221-224. 1990
|
| 120 | FXN, D9S5, D9S15
|
| Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
|
| Fujita R, et al.
|
| Proc Natl Acad Sci U S A 87 : 1796-1800. 1990
|
| 121 | FXN
|
| Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.
|
| Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik KH, Nakamura Y, Mandel JL, Hanauer A.
|
| Genomics 4 : 110-111. 1989
|
| 122 | FXN
|
| Genetic homogeneity at the Friedreich ataxia locus on chromosome 9.
|
| Chamberlain S, et al.
|
| Am J Hum Genet 44 : 518-521. 1989
|
| 123 | FXN
|
| Acadian and classical forms of Friedreich ataxia are most probably caused by mutations at the same locus.
|
| Keats BJ, Ward LJ, Shaw J, Wickremasinghe A, Chamberlain S.
|
| Am J Med Genet 33 : 266-268. 1989
|
| 124 | FXN
|
| Linkage studies with Friedreich's ataxia in Australian pedigrees.
|
| Ross DA, et al.
|
| Cytogenet Cell Genet 51 : 1069. 1989
|
| 125 | FXN, D9S15, FRDA
|
| Mapping of mutation causing Friedreich's ataxia to human chromosome 9.
|
| Chamberlain S, et al.
|
| Nature 334 : 248-250. 1988
|