| 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 | 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
|
| 3 | 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
|
| 4 | FRDA
|
| Therapeutic approaches for the treatment of Friedreich's ataxia.
|
| Strawser CJ, Schadt KA, Lynch DR.
|
| Expert Rev Neurother 14(8):949-57. doi: 10.1586/14737175.2014.939173. Epub 2014 Jul 18.
2014
|
| 5 | 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
|
| 6 | FRDA, FXN
|
| 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
|
| 7 | 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
|
| 8 | 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
|
| 9 | 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
|
| 10 | 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
|
| 11 | 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
|
| 12 | 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
|
| 13 | CLPP, FRDA, LONP1
|
| Frataxin deficiency causes upregulation of mitochondrial Lon and ClpP proteases and severe loss of mitochondrial Fe-S proteins.
|
| Guillon B, Bulteau AL, Wattenhofer-Donzé M, Schmucker S, Friguet B, Puccio H, Drapier JC, Bouton C.
|
| FEBS J 276(4):1036-47. doi: 10.1111/j.1742-4658.2008.06847.x. Epub 2008 Jan 12.
2009
|
| 14 | 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
|
| 15 | 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
|
| 16 | FRDA
|
| Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.
|
| De Biase I, Rasmussen A, Monticelli A, Al-Mahdawi S, Pook M, Cocozza S, Bidichandani SI.
|
| Genomics 90(1):1-5. Epub 2007 May 10. 2007
|
| 17 | FRDA
|
| Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.
|
| Babady NE, Carelle N, Wells RD, Rouault TA, Hirano M, Lynch DR, Delatycki MB, Wilson RB, Isaya G, Puccio H.
|
| Mol Genet Metab 92(1-2):23-35. Epub 2007 Jun 26. 2007
|
| 18 | FRDA
|
| The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins.
|
| Koeppen AH, Michael SC, Knutson MD, Haile DJ, Qian J, Levi S, Santambrogio P, Garrick MD, Lamarche JB.
|
| Acta Neuropathol 114(2):163-73. Epub 2007 Apr 11.
2007
|
| 19 | 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
|
| 20 | 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
|
| 21 | 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
|
| 22 | 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
|
| 23 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
|
| Nuclear genetic defects of oxidative phosphorylation.
|
| Shoubridge EA.
|
| Hum Mol Genet 10(20):2277-84. Review. 2001
|
| 24 | FXN, D9S15, FRDA
|
| Mapping of mutation causing Friedreich's ataxia to human chromosome 9.
|
| Chamberlain S, et al.
|
| Nature 334 : 248-250. 1988
|