메뉴 건너뛰기




Volumn 17, Issue 91, 2014, Pages 25-36

Beyond loss of frataxin: The complex molecular pathology of friedreich ataxia

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; OCTAMER TRANSCRIPTION FACTOR 4; SERUM RESPONSE FACTOR;

EID: 84892718090     PISSN: 15396509     EISSN: 19447930     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (26)

References (99)
  • 1
    • 39749136603 scopus 로고    scopus 로고
    • The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
    • Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 17(5):735-746, 2008.
    • (2008) Hum Mol Genet , vol.17 , Issue.5 , pp. 735-746
    • Al-Mahdawi, S.1    Pinto, R.M.2    Ismail, O.3    Varshney, D.4    Lymperi, S.5    Sandi, C.6    Trabzuni, D.7    Pook, M.8
  • 4
    • 0035966319 scopus 로고    scopus 로고
    • microRNAs: tiny regulators with great potential
    • Ambros V. microRNAs: tiny regulators with great potential. Cell 107(7):823-826, 2001.
    • (2001) Cell , vol.107 , Issue.7 , pp. 823-826
    • Ambros, V.1
  • 5
    • 0014220140 scopus 로고
    • Structure of beta-poly-L-alanine: refined atomic co-ordinates for an anti-parallel beta-pleated sheet
    • Arnott S, Dover SD, Elliott A. Structure of beta-poly-L-alanine: refined atomic co-ordinates for an anti-parallel beta-pleated sheet. J Mol Biol 30(1):201-208, 1967.
    • (1967) J Mol Biol , vol.30 , Issue.1 , pp. 201-208
    • Arnott, S.1    Dover, S.D.2    Elliott, A.3
  • 8
    • 0031941447 scopus 로고    scopus 로고
    • 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. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62(1):111-121, 1998.
    • (1998) Am J Hum Genet , vol.62 , Issue.1 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 9
    • 34249337761 scopus 로고    scopus 로고
    • Perceptions of epigenetics
    • Bird A. Perceptions of epigenetics. Nature 447(7143):396-398, 2007.
    • (2007) Nature , vol.447 , Issue.7143 , pp. 396-398
    • Bird, A.1
  • 11
    • 80051779168 scopus 로고    scopus 로고
    • 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. Structure-function analysis of Friedreich's ataxia mutants reveals determinants of frataxin binding and activation of the Fe-S assembly complex. Biochemistry 50(33):7265-7274, 2011.
    • (2011) Biochemistry , vol.50 , Issue.33 , pp. 7265-7274
    • Bridwell-Rabb, J.1    Winn, A.M.2    Barondeau, D.P.3
  • 12
    • 3042763187 scopus 로고    scopus 로고
    • 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. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 305(5681):242-245, 2004.
    • (2004) Science , vol.305 , Issue.5681 , pp. 242-245
    • Bulteau, A.L.1    O'neill, H.A.2    Kennedy, M.C.3    Ikeda-Saito, M.4    Isaya, G.5    Szweda, L.I.6
  • 16
    • 33845652267 scopus 로고    scopus 로고
    • The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
    • Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, Bidichandani SI. The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet 120(5):633-640, 2007.
    • (2007) Hum Genet , vol.120 , Issue.5 , pp. 633-640
    • Clark, R.M.1    De Biase, I.2    Malykhina, A.P.3    Al-Mahdawi, S.4    Pook, M.5    Bidichandani, S.I.6
  • 24
    • 70949099119 scopus 로고    scopus 로고
    • Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
    • De Biase I, Chutake YK, Rindler PM, Bidichandani SI. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One 4(11):e7914, 2009.
    • (2009) PLoS One , vol.4 , Issue.11
    • De Biase, I.1    Chutake, Y.K.2    Rindler, P.M.3    Bidichandani, S.I.4
  • 26
    • 34249988198 scopus 로고    scopus 로고
    • 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. Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics 90(1):1-5, 2007b.
    • (2007) Genomics , vol.90 , Issue.1 , pp. 1-5
    • De Biase, I.1    Rasmussen, A.2    Monticelli, A.3    Al-Mahdawi, S.4    Pook, M.5    Cocozza, S.6    Bidichandani, S.I.7
  • 27
    • 0031816520 scopus 로고    scopus 로고
    • Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene
    • Delatycki M, Paris D, Gardner R, Forshaw K, Nicholson G, Nassif N, Williamson R, Forrest S. Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J Med Genet 35(9):713-716, 1998.
    • (1998) J Med Genet , vol.35 , Issue.9 , pp. 713-716
    • Delatycki, M.1    Paris, D.2    Gardner, R.3    Forshaw, K.4    Nicholson, G.5    Nassif, N.6    Williamson, R.7    Forrest, S.8
  • 35
    • 84882687005 scopus 로고    scopus 로고
    • c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia
    • Gendron TF, Cosio DM, Petrucelli L. c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia. Expert Opin Ther Targets 17(9):991-995, 2013.
    • (2013) Expert Opin Ther Targets , vol.17 , Issue.9 , pp. 991-995
    • Gendron, T.F.1    Cosio, D.M.2    Petrucelli, L.3
  • 36
    • 0030296878 scopus 로고    scopus 로고
    • Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction
    • Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci 19(11):465-468, 1996.
    • (1996) Trends Neurosci , vol.19 , Issue.11 , pp. 465-468
    • Gibson, T.J.1    Koonin, E.V.2    Musco, G.3    Pastore, A.4    Bork, P.5
  • 38
    • 34548775695 scopus 로고    scopus 로고
    • A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
    • Grabczyk E, Mancuso M, Sammarco MC. A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucleic Acids Res 35(16):5351-5359, 2007.
    • (2007) Nucleic Acids Res , vol.35 , Issue.16 , pp. 5351-5359
    • Grabczyk, E.1    Mancuso, M.2    Sammarco, M.C.3
  • 39
    • 0034660695 scopus 로고    scopus 로고
    • The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
    • Grabczyk E, Usdin K. The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 28(14):2815-2822, 2000.
    • (2000) Nucleic Acids Res , vol.28 , Issue.14 , pp. 2815-2822
    • Grabczyk, E.1    Usdin, K.2
  • 40
    • 12844275023 scopus 로고    scopus 로고
    • Ancient repeated DNA elements and the regulation of the human frataxin promoter
    • Greene E, Entezam A, Kumari D, Usdin K. Ancient repeated DNA elements and the regulation of the human frataxin promoter. Genomics 85(2):221-230, 2005.
    • (2005) Genomics , vol.85 , Issue.2 , pp. 221-230
    • Greene, E.1    Entezam, A.2    Kumari, D.3    Usdin, K.4
  • 41
    • 34250830900 scopus 로고    scopus 로고
    • Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
    • 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 35(10):3383-3390, 2007.
    • (2007) Nucleic Acids Res , vol.35 , Issue.10 , pp. 3383-3390
    • Greene, E.1    Mahishi, L.2    Entezam, A.3    Kumari, D.4    Usdin, K.5
  • 42
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: a maturing perspective
    • Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 74(5):805-816, 2004.
    • (2004) Am J Hum Genet , vol.74 , Issue.5 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 43
    • 0019782799 scopus 로고
    • Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
    • Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104(3):589-620, 1981.
    • (1981) Brain , vol.104 , Issue.3 , pp. 589-620
    • Harding, A.E.1
  • 46
    • 0030826433 scopus 로고    scopus 로고
    • Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo
    • Jiralerspong S, Liu Y, Montermini L, Stifani S, Pandolfo M. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis 4(2):103-113, 1997.
    • (1997) Neurobiol Dis , vol.4 , Issue.2 , pp. 103-113
    • Jiralerspong, S.1    Liu, Y.2    Montermini, L.3    Stifani, S.4    Pandolfo, M.5
  • 49
    • 80455149647 scopus 로고    scopus 로고
    • Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia
    • Kim E, Napierala M, Dent SY. Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucleic Acids Res 39(19):8366-8377, 2011.
    • (2011) Nucleic Acids Res , vol.39 , Issue.19 , pp. 8366-8377
    • Kim, E.1    Napierala, M.2    Dent, S.Y.3
  • 54
    • 79953006870 scopus 로고    scopus 로고
    • Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells
    • Kumari D, Biacsi RE, Usdin K. Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. J Biol Chem 286(6):4209-4215, 2011.
    • (2011) J Biol Chem , vol.286 , Issue.6 , pp. 4209-4215
    • Kumari, D.1    Biacsi, R.E.2    Usdin, K.3
  • 55
    • 0030904035 scopus 로고    scopus 로고
    • Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients
    • Lamont P, Davis M, Wood N. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain 120(4):673-680, 1997.
    • (1997) Clinical and genetic correlates. Brain , vol.120 , Issue.4 , pp. 673-680
    • Lamont, P.1    Davis, M.2    Wood, N.3
  • 57
  • 58
    • 0016259873 scopus 로고
    • Crystal structure of polyglycine I
    • Lotz B. Crystal structure of polyglycine I. J Mol Biol 87(2):169-180, 1974.
    • (1974) J Mol Biol , vol.87 , Issue.2 , pp. 169-180
    • Lotz, B.1
  • 59
    • 0036098482 scopus 로고    scopus 로고
    • Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.[see comment]
    • Lynch DR, Farmer JM, Balcer LJ, Wilson RB. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.[see comment]. Arch Neurol 59(5):743-747, 2002.
    • (2002) Arch Neurol , vol.59 , Issue.5 , pp. 743-747
    • Lynch, D.R.1    Farmer, J.M.2    Balcer, L.J.3    Wilson, R.B.4
  • 60
    • 84863462639 scopus 로고    scopus 로고
    • miR-886-3p levels are elevated in Friedreich ataxia
    • Mahishi LH, Hart RP, Lynch DR, Ratan RR. miR-886-3p levels are elevated in Friedreich ataxia. J Neurosci 32(27):9369-9373, 2012.
    • (2012) J Neurosci , vol.32 , Issue.27 , pp. 9369-9373
    • Mahishi, L.H.1    Hart, R.P.2    Lynch, D.R.3    Ratan, R.R.4
  • 63
    • 0030815628 scopus 로고    scopus 로고
    • 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. Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology 49(2):606-610, 1997.
    • (1997) Neurology , vol.49 , Issue.2 , pp. 606-610
    • Montermini, L.1    Kish, S.J.2    Jiralerspong, S.3    Lamarche, J.B.4    Pandolfo, M.5
  • 64
    • 0032486276 scopus 로고    scopus 로고
    • Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo
    • Ohshima K, Montermini L, Wells RD, Pandolfo M. Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J Biol Chem 273(23):14588-14595, 1998.
    • (1998) J Biol Chem , vol.273 , Issue.23 , pp. 14588-14595
    • Ohshima, K.1    Montermini, L.2    Wells, R.D.3    Pandolfo, M.4
  • 65
    • 34249704041 scopus 로고    scopus 로고
    • Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin
    • Oktay Y, Dioum E, Matsuzaki S, Ding K, Yan LJ, Haller RG, Szweda LI, Garcia JA. Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin. J Biol Chem 282(16):11750-11756, 2007.
    • (2007) J Biol Chem , vol.282 , Issue.16 , pp. 11750-11756
    • Oktay, Y.1    Dioum, E.2    Matsuzaki, S.3    Ding, K.4    Yan, L.J.5    Haller, R.G.6    Szweda, L.I.7    Garcia, J.A.8
  • 66
    • 58149375393 scopus 로고    scopus 로고
    • The bifunctional microRNA miR-9/miR-9* regulates REST and CoREST and is downregulated in Huntington's disease
    • Packer AN, Xing Y, Harper SQ, Jones L, Davidson BL. The bifunctional microRNA miR-9/miR-9* regulates REST and CoREST and is downregulated in Huntington's disease. J Neurosci 28(53):14341-14346, 2008.
    • (2008) J Neurosci , vol.28 , Issue.53 , pp. 14341-14346
    • Packer, A.N.1    Xing, Y.2    Harper, S.Q.3    Jones, L.4    Davidson, B.L.5
  • 67
    • 84882482724 scopus 로고    scopus 로고
    • Friedreich's ataxia.
    • RD Wells, T Ashizawa (Eds.) Academic Press, USA
    • Pandolfo M. Friedreich's ataxia. In: Genetic Instabilities and Neurological Diseases. RD Wells, T Ashizawa (Eds.) )pp 277-296. Academic Press, USA, 2006.
    • (2006) Genetic Instabilities and Neurological Diseases , pp. 277-296
    • Pandolfo, M.1
  • 68
    • 79953745706 scopus 로고    scopus 로고
    • Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities!
    • Pearson CE. Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet 7(3):e1002018, 2011.
    • (2011) PLoS Genet , vol.7 , Issue.3
    • Pearson, C.E.1
  • 69
    • 84865626592 scopus 로고    scopus 로고
    • A review of Friedreich ataxia clinical trial results
    • Perlman SL. A review of Friedreich ataxia clinical trial results. J Child Neurol 27(9):1217-1222, 2012.
    • (2012) J Child Neurol , vol.27 , Issue.9 , pp. 1217-1222
    • Perlman, S.L.1
  • 72
    • 33846939794 scopus 로고    scopus 로고
    • Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy
    • Puccio H. Conditional mouse models for Friedreich ataxia, a neurodegenerative disorder associating cardiomyopathy. Handb Exp Pharmacol (178):365-375, 2007.
    • (2007) Handb Exp Pharmacol , Issue.178 , pp. 365-375
    • Puccio, H.1
  • 73
    • 0035138072 scopus 로고    scopus 로고
    • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
    • Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27(2):181-186, 2001.
    • (2001) Nat Genet , vol.27 , Issue.2 , pp. 181-186
    • Puccio, H.1    Simon, D.2    Cossee, M.3    Criqui-Filipe, P.4    Tiziano, F.5    Melki, J.6    Hindelang, C.7    Matyas, R.8    Rustin, P.9    Koenig, M.10
  • 75
    • 77952530173 scopus 로고    scopus 로고
    • Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model
    • Rai M, Soragni E, Chou CJ, Barnes G, Jones S, Rusche JR, Gottesfeld JM, Pandolfo M. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS One 5(1):e8825, 2010.
    • (2010) PLoS One , vol.5 , Issue.1
    • Rai, M.1    Soragni, E.2    Chou, C.J.3    Barnes, G.4    Jones, S.5    Rusche, J.R.6    Gottesfeld, J.M.7    Pandolfo, M.8
  • 78
    • 33748373580 scopus 로고    scopus 로고
    • RNA-mediated neuromuscular disorders
    • Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29:259-277, 2006.
    • (2006) Annu Rev Neurosci , vol.29 , pp. 259-277
    • Ranum, L.P.1    Cooper, T.A.2
  • 80
    • 47249142777 scopus 로고    scopus 로고
    • Iron-sulfur cluster biogenesis and human disease
    • Rouault TA, Tong WH. Iron-sulfur cluster biogenesis and human disease. Trends Genet 24(8):398-407, 2008.
    • (2008) Trends Genet , vol.24 , Issue.8 , pp. 398-407
    • Rouault, T.A.1    Tong, W.H.2
  • 81
    • 0033120042 scopus 로고    scopus 로고
    • Sticky DNA: self-association properties of long GAA TTC repeats in RRY triplex structures from Friedreich's ataxia
    • Sakamoto N, Chastain PD, Parniewski P, Ohshima K, Pandolfo M, Griffith JD, Wells RD. Sticky DNA: self-association properties of long GAA TTC repeats in RRY triplex structures from Friedreich's ataxia. Mol Cell 3(4):465-475, 1999.
    • (1999) Mol Cell , vol.3 , Issue.4 , pp. 465-475
    • Sakamoto, N.1    Chastain, P.D.2    Parniewski, P.3    Ohshima, K.4    Pandolfo, M.5    Griffith, J.D.6    Wells, R.D.7
  • 83
    • 77954930779 scopus 로고    scopus 로고
    • Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities
    • Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal 13(5):651-690, 2010.
    • (2010) Antioxid Redox Signal , vol.13 , Issue.5 , pp. 651-690
    • Santos, R.1    Lefevre, S.2    Sliwa, D.3    Seguin, A.4    Camadro, J.M.5    Lesuisse, E.6
  • 85
    • 0037464584 scopus 로고    scopus 로고
    • DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
    • Saveliev A, Everett C, Sharpe T, Webster Z, Festenstein R. DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 422(6934):909-913, 2003.
    • (2003) Nature , vol.422 , Issue.6934 , pp. 909-913
    • Saveliev, A.1    Everett, C.2    Sharpe, T.3    Webster, Z.4    Festenstein, R.5
  • 86
    • 42449093713 scopus 로고    scopus 로고
    • Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer
    • Schagerlof U, Elmlund H, Gakh O, Nordlund G, Hebert H, Lindahl M, Isaya G, Al-Karadaghi S. Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer. Biochemistry 47(17):4948-4954, 2008.
    • (2008) Biochemistry , vol.47 , Issue.17 , pp. 4948-4954
    • Schagerlof, U.1    Elmlund, H.2    Gakh, O.3    Nordlund, G.4    Hebert, H.5    Lindahl, M.6    Isaya, G.7    Al-Karadaghi, S.8
  • 89
    • 56049103058 scopus 로고    scopus 로고
    • Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
    • Soragni E, Herman D, Dent SY, Gottesfeld JM, Wells RD, Napierala M. Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res 36(19):6056-6065, 2008.
    • (2008) Nucleic Acids Res , vol.36 , Issue.19 , pp. 6056-6065
    • Soragni, E.1    Herman, D.2    Dent, S.Y.3    Gottesfeld, J.M.4    Wells, R.D.5    Napierala, M.6
  • 90
    • 77956248535 scopus 로고    scopus 로고
    • Frataxin and mitochondrial FeS cluster biogenesis
    • Stemmler TL, Lesuisse E, Pain D, Dancis A. Frataxin and mitochondrial FeS cluster biogenesis. J Biol Chem 285(35):26737-26743, 2010.
    • (2010) J Biol Chem , vol.285 , Issue.35 , pp. 26737-26743
    • Stemmler, T.L.1    Lesuisse, E.2    Pain, D.3    Dancis, A.4
  • 92
    • 33748805480 scopus 로고    scopus 로고
    • Spreading of silent chromatin: inaction at a distance
    • Talbert PB, Henikoff S. Spreading of silent chromatin: inaction at a distance. Nat Rev Genet 7(10):793-803, 2006.
    • (2006) Nat Rev Genet , vol.7 , Issue.10 , pp. 793-803
    • Talbert, P.B.1    Henikoff, S.2
  • 95
    • 44949208513 scopus 로고    scopus 로고
    • DNA triplexes and Friedreich ataxia
    • Wells RD. DNA triplexes and Friedreich ataxia. FASEB J 22(6):1625-1634, 2008.
    • (2008) FASEB J , vol.22 , Issue.6 , pp. 1625-1634
    • Wells, R.D.1
  • 96
    • 46749124616 scopus 로고    scopus 로고
    • Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers
    • Willis JH, Isaya G, Gakh O, Capaldi RA, Marusich MF. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. Mol Genet Metab 94(4):491-497, 2008.
    • (2008) Mol Genet Metab , vol.94 , Issue.4 , pp. 491-497
    • Willis, J.H.1    Isaya, G.2    Gakh, O.3    Capaldi, R.A.4    Marusich, M.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.