메뉴 건너뛰기




Volumn , Issue , 2013, Pages

Friedreich's ataxia, frataxin, PIP5K1B: Echo of a distant fracas

Author keywords

[No Author keywords available]

Indexed keywords

CANDIDATE GENES; FRATAXIN; FRIEDREICH'S ATAXIAS;

EID: 84886650601     PISSN: 19420900     EISSN: 19420994     Source Type: Journal    
DOI: 10.1155/2013/725635     Document Type: Article
Times cited : (8)

References (55)
  • 1
    • 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 A. E., 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 1981 104 3 589 620 2-s2.0-0019782799 (Pubitemid 12202197)
    • (1981) Brain , vol.104 , Issue.3 , pp. 589-620
    • Harding, A.E.1
  • 2
    • 79952814526 scopus 로고    scopus 로고
    • Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
    • 2-s2.0-79952814526 10.1016/j.jns.2011.01.010
    • Koeppen A. H., Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. Journal of the Neurological Sciences 2011 303 1-2 1 12 2-s2.0-79952814526 10.1016/j.jns.2011.01.010
    • (2011) Journal of the Neurological Sciences , vol.303 , Issue.1-2 , pp. 1-12
    • Koeppen, A.H.1
  • 10
    • 0037101845 scopus 로고    scopus 로고
    • The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins
    • Mühlenhoff U., Richhardt N., Ristow M., Kispal G., Lill R., The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Human Molecular Genetics 2002 11 17 2025 2036 2-s2.0-0037101845 (Pubitemid 34919277)
    • (2002) Human Molecular Genetics , vol.11 , Issue.17 , pp. 2025-2036
    • Muhlenhoff, U.1    Richhardt, N.2    Ristow, M.3    Kispal, G.4    Lill, R.5
  • 11
    • 9744248303 scopus 로고    scopus 로고
    • Iron-sulfur protein maturation in human cells: Evidence for a function of frataxin
    • DOI 10.1093/hmg/ddh324
    • Stehling O., Elsässer H.-P., Brückel B., Mühlenhoff U., Lill R., Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Human Molecular Genetics 2004 13 23 3007 3015 2-s2.0-9744248303 10.1093/hmg/ddh324 (Pubitemid 39585233)
    • (2004) Human Molecular Genetics , vol.13 , Issue.23 , pp. 3007-3015
    • Stehling, O.1    Elsasser, H.2    Bruckel, B.3    Muhlenhoff, U.4    Lill, R.5
  • 12
    • 84881033328 scopus 로고    scopus 로고
    • The role of mitochondria in cellular iron-sulfur protein biogenesis: Mechanisms, connected processes, and diseases
    • 10.1101/cshperspect.a011312
    • Stehling O., Lill R., The role of mitochondria in cellular iron-sulfur protein biogenesis: mechanisms, connected processes, and diseases. Cold Spring Harbor Perspectives in Biology 2013 5 8 10.1101/cshperspect.a011312
    • (2013) Cold Spring Harbor Perspectives in Biology , vol.5 , Issue.8
    • Stehling, O.1    Lill, R.2
  • 13
    • 80053628321 scopus 로고    scopus 로고
    • Friedreich's ataxia: The vicious circle hypothesis revisited
    • 2-s2.0-80053628321 10.1186/1741-7015-9-112
    • Bayot A., Santos R., Camadro J.-M., Rustin P., Friedreich's ataxia: the vicious circle hypothesis revisited. BMC Medicine 2011 9, article no. 112 2-s2.0-80053628321 10.1186/1741-7015-9-112
    • (2011) BMC Medicine , vol.9112
    • Bayot, A.1    Santos, R.2    Camadro, J.-M.3    Rustin, P.4
  • 14
    • 35449008450 scopus 로고    scopus 로고
    • Frataxin is essential for extramitochondrial Fe - S cluster proteins in mammalian tissues
    • DOI 10.1093/hmg/ddm163
    • Martelli A., Wattenhofer-Donzé M., Schmucker S., Bouvet S., Reutenauer L., Puccio H., Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues. Human Molecular Genetics 2007 16 22 2651 2658 2-s2.0-35449008450 10.1093/hmg/ddm163 (Pubitemid 350018507)
    • (2007) Human Molecular Genetics , vol.16 , Issue.22 , pp. 2651-2658
    • Martelli, A.1    Wattenhofer-donze, M.2    Schmucker, S.3    Bouvet, S.4    Reutenauer, L.5    Puccio, H.6
  • 16
    • 64249161639 scopus 로고    scopus 로고
    • Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia
    • ARTICLE E4253 2-s2.0-64249161639 10.1371/journal.pone.0004253
    • Paupe V., Dassa E. P., Goncalves S., Auchère F., Lönn M., Holmgren A., Rustin P., Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia. PLoS ONE 2009 4 1, article e4253 2-s2.0-64249161639 10.1371/journal.pone.0004253
    • (2009) PLoS ONE , vol.4 , Issue.1
    • Paupe, V.1    Dassa, E.P.2    Goncalves, S.3    Auchère, F.4    Lönn, M.5    Holmgren, A.6    Rustin, P.7
  • 17
    • 0142211205 scopus 로고    scopus 로고
    • Actin Glutathionylation Increases in Fibroblasts of Patients with Friedreich's Ataxia: A potential role in the pathogenesis of the disease
    • DOI 10.1074/jbc.M301872200
    • Pastore A., Tozzi G., Gaeta L. M., Bertini E., Serafini V., di Cesare S., Bonetto V., Casoni F., Carrozzo R., Federici G., Piemonte F., Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease. Journal of Biological Chemistry 2003 278 43 42588 42595 2-s2.0-0142211205 10.1074/jbc.M301872200 (Pubitemid 37310532)
    • (2003) Journal of Biological Chemistry , vol.278 , Issue.43 , pp. 42588-42595
    • Pastore, A.1    Tozzi, G.2    Gaeta, L.M.3    Bertini, E.4    Serafini, V.5    Di Cesare, S.6    Bonetto, V.7    Casoni, F.8    Carrozzo, R.9    Federici, G.10    Piemonte, F.11
  • 18
    • 84856147847 scopus 로고    scopus 로고
    • Epigenetics in nucleotide repeat expansion disorders
    • 2-s2.0-84856147847 10.1055/s-0031-1299786
    • He F., Todd P. K., Epigenetics in nucleotide repeat expansion disorders. Seminars in Neurology 2011 31 5 470 483 2-s2.0-84856147847 10.1055/s-0031- 1299786
    • (2011) Seminars in Neurology , vol.31 , Issue.5 , pp. 470-483
    • He, F.1    Todd, P.K.2
  • 19
    • 84880323204 scopus 로고    scopus 로고
    • Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies
    • 10.1093/hmg/ddt144
    • Bayot A., Reichman S., Lebon S., Csaba Z., Aubry L., Sterkers G., Husson I., Rak M., Rustin P., Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies. Human Molecular Genetics 2013 22 2894 2904 10.1093/hmg/ddt144
    • (2013) Human Molecular Genetics , vol.22 , pp. 2894-2904
    • Bayot, A.1    Reichman, S.2    Lebon, S.3    Csaba, Z.4    Aubry, L.5    Sterkers, G.6    Husson, I.7    Rak, M.8    Rustin, P.9
  • 20
    • 77952889125 scopus 로고    scopus 로고
    • Epigenetic changes and non-coding expanded repeats
    • 2-s2.0-77952889125 10.1016/j.nbd.2010.02.004
    • Nakamori M., Thornton C., Epigenetic changes and non-coding expanded repeats. Neurobiology of Disease 2010 39 1 21 27 2-s2.0-77952889125 10.1016/j.nbd.2010.02.004
    • (2010) Neurobiology of Disease , vol.39 , Issue.1 , pp. 21-27
    • Nakamori, M.1    Thornton, C.2
  • 21
    • 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
    • DOI 10.1086/301680
    • Bidichandani S. I., Ashizawa T., Patel P. I., The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. American Journal of Human Genetics 1998 62 1 111 121 2-s2.0-0031941447 10.1086/301680 (Pubitemid 28093840)
    • (1998) American Journal of Human Genetics , vol.62 , Issue.1 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 22
    • 0037464584 scopus 로고    scopus 로고
    • DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
    • DOI 10.1038/nature01596
    • Saveliev A., Everett C., Sharpe T., Webster Z., Festenstein R., DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 2003 422 6934 909 913 10.1038/nature01596 (Pubitemid 36520045)
    • (2003) Nature , vol.422 , Issue.6934 , pp. 909-913
    • Savellev, A.1    Everett, C.2    Sharpe, T.3    Webster, Z.4    Festenstein, R.5
  • 23
    • 84883371239 scopus 로고    scopus 로고
    • Epigenetics in Friedreich's ataxia: Challenges and opportunities for therapy
    • 852080 10.1155/2013/852080
    • Sandi C., Al-Mahdawi S., Pook M. A., Epigenetics in Friedreich's ataxia: challenges and opportunities for therapy. Genetics Research International 2013 2013 12 852080 10.1155/2013/852080
    • (2013) Genetics Research International , vol.2013 , pp. 12
    • Sandi, C.1    Al-Mahdawi, S.2    Pook, M.A.3
  • 24
    • 34748841015 scopus 로고    scopus 로고
    • Small molecules affecting transcription in Friedreich ataxia
    • DOI 10.1016/j.pharmthera.2007.06.014, PII S0163725807001519
    • Gottesfeld J. M., Small molecules affecting transcription in Friedreich ataxia. Pharmacology & Therapeutics 2007 116 2 236 248 2-s2.0-34748841015 10.1016/j.pharmthera.2007.06.014 (Pubitemid 47469990)
    • (2007) Pharmacology and Therapeutics , vol.116 , Issue.2 , pp. 236-248
    • Gottesfeld, J.M.1
  • 25
    • 33748778745 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
    • DOI 10.1038/nchembio815, PII NCHEMBIO815
    • Herman D., Jenssen K., Burnett R., Soragni E., Perlman S. L., Gottesfeld J. M., Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nature Chemical Biology 2006 2 10 551 558 10.1038/nchembio815 (Pubitemid 44413238)
    • (2006) Nature Chemical Biology , vol.2 , Issue.10 , pp. 551-558
    • Herman, D.1    Jenssen, K.2    Burnett, R.3    Soragni, E.4    Perlman, S.L.5    Gottesfeld, J.M.6
  • 26
    • 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
    • ARTICLE E8825 2-s2.0-77952530173 10.1371/journal.pone.0008825
    • Rai M., Soragni E., Chou C. J., Barnes G., Jones S., Rusche J. R., Gottesfeld J. M., 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 2010 5 1, article e8825 2-s2.0-77952530173 10.1371/journal.pone.0008825
    • (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
  • 27
    • 44349114629 scopus 로고    scopus 로고
    • HDAC inihibitors correct frataxin deficiency in a Friedreich ataxia mouse model
    • DOI 10.1371/journal.pone.0001958
    • Rai M., Soragni E., Jenssen K., Burnett R., Herman D., Coppola G., Geschwind D. H., Gottesfeld J. M., Pandolfo M., HDAC inihibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 2008 3 4, article e1958 2-s2.0-44349114629 10.1371/journal.pone.0001958 (Pubitemid 351984393)
    • (2008) PLoS ONE , vol.3 , Issue.4
    • Rai, M.1    Soragni, E.2    Jenssen, K.3    Burnett, R.4    Herman, D.5    Coppola, G.6    Geschwind, D.H.7    Gottesfeld, J.M.8    Pandolfo, M.9
  • 28
    • 79954628287 scopus 로고    scopus 로고
    • Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model
    • 2-s2.0-79954628287 10.1016/j.nbd.2011.02.016
    • Sandi C., Pinto R. M., Al-Mahdawi S., Ezzatizadeh V., Barnes G., Jones S., Rusche J. R., Gottesfeld J. M., Pook M. A., Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiology of Disease 2011 42 3 496 505 2-s2.0-79954628287 10.1016/j.nbd.2011.02.016
    • (2011) Neurobiology of Disease , vol.42 , Issue.3 , pp. 496-505
    • Sandi, C.1    Pinto, R.M.2    Al-Mahdawi, S.3    Ezzatizadeh, V.4    Barnes, G.5    Jones, S.6    Rusche, J.R.7    Gottesfeld, J.M.8    Pook, M.A.9
  • 29
    • 80455149647 scopus 로고    scopus 로고
    • Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia
    • 2-s2.0-80455149647 10.1093/nar/gkr542
    • Kim E., Napierala M., Dent S. Y. R., Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia. Nucleic Acids Research 2011 39 19 8366 8377 2-s2.0-80455149647 10.1093/nar/gkr542
    • (2011) Nucleic Acids Research , vol.39 , Issue.19 , pp. 8366-8377
    • Kim, E.1    Napierala, M.2    Dent, S.Y.R.3
  • 30
    • 77953659252 scopus 로고    scopus 로고
    • Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation
    • 2-s2.0-77953659252 10.1002/emmm.201000064
    • Punga T., Bühler M., Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation. EMBO Molecular Medicine 2010 2 4 120 129 2-s2.0-77953659252 10.1002/emmm.201000064
    • (2010) EMBO Molecular Medicine , vol.2 , Issue.4 , pp. 120-129
    • Punga, T.1    Bühler, M.2
  • 31
    • 79953006870 scopus 로고    scopus 로고
    • Repeat expansion affects both transcription initiation and elongation in Friedreich ataxia cells
    • 2-s2.0-79953006870 10.1074/jbc.M110.194035
    • Kumari D., Biacsi R. E., Usdin K., Repeat expansion affects both transcription initiation and elongation in Friedreich ataxia cells. Journal of Biological Chemistry 2011 286 6 4209 4215 2-s2.0-79953006870 10.1074/jbc.M110.194035
    • (2011) Journal of Biological Chemistry , vol.286 , Issue.6 , pp. 4209-4215
    • Kumari, D.1    Biacsi, R.E.2    Usdin, K.3
  • 32
    • 70949099119 scopus 로고    scopus 로고
    • Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
    • ARTICLE E7914 2-s2.0-70949099119 10.1371/journal.pone.0007914
    • de Biase I., Chutake Y. K., Rindler P. M., Bidichandani S. I., Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS ONE 2009 4 11, article e7914 2-s2.0-70949099119 10.1371/journal.pone.0007914
    • (2009) PLoS ONE , vol.4 , Issue.11
    • De Biase, I.1    Chutake, Y.K.2    Rindler, P.M.3    Bidichandani, S.I.4
  • 33
    • 0030846021 scopus 로고    scopus 로고
    • Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
    • DOI 10.1126/science.276.5319.1709
    • Babcock M., de Silva D., Oaks R., Davis-Kaplan S., Jiralerspong S., Montermini L., Pandolfo M., Kaplan J., Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997 276 5319 1709 1712 2-s2.0-0030846021 10.1126/science.276.5319.1709 (Pubitemid 27421980)
    • (1997) Science , vol.276 , Issue.5319 , pp. 1709-1712
    • Babcock, M.1    De Silva, D.2    Oaks, R.3    Davis-Kaplan, S.4    Jiralerspong, S.5    Montermini, L.6    Pandolfo, M.7    Kaplan, J.8
  • 35
    • 3042763187 scopus 로고    scopus 로고
    • Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity
    • DOI 10.1126/science.1098991
    • Bulteau A.-L., O'Neill H. A., Kennedy M. C., Ikeda-Saito M., Isaya G., Szweda L. I., Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 2004 305 5681 242 245 2-s2.0-3042763187 10.1126/science.1098991 (Pubitemid 38886737)
    • (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
  • 36
    • 84865709703 scopus 로고    scopus 로고
    • Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells
    • 10.1093/hmg/dds230
    • Lefevre S., Brossas C., Auchere F., Boggetto N., Camadro J. M., Santos R., Apn1 AP-endonuclease is essential for the repair of oxidatively damaged DNA bases in yeast frataxin-deficient cells. Human Molecular Genetics 2012 21 4060 4072 10.1093/hmg/dds230
    • (2012) Human Molecular Genetics , vol.21 , pp. 4060-4072
    • Lefevre, S.1    Brossas, C.2    Auchere, F.3    Boggetto, N.4    Camadro, J.M.5    Santos, R.6
  • 37
    • 84875582275 scopus 로고    scopus 로고
    • Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia
    • 10.1016/j.mcn.2012.08.003
    • Vaubel R. A., Isaya G., Iron-sulfur cluster synthesis, iron homeostasis and oxidative stress in Friedreich ataxia. Molecular and Cellular Neuroscience 2013 55 50 61 10.1016/j.mcn.2012.08.003
    • (2013) Molecular and Cellular Neuroscience , vol.55 , pp. 50-61
    • Vaubel, R.A.1    Isaya, G.2
  • 39
    • 81055156781 scopus 로고    scopus 로고
    • Rac1 and calmodulin interactions modulate dynamics of ARF6-dependent endocytosis
    • 2-s2.0-81055156781 10.1111/j.1600-0854.2011.01274.x
    • Vidal-Quadras M., Gelabert-Baldrich M., Soriano-Castell D., Lladó A., Rentero C., Calvo M., Pol A., Enrich C., Tebar F., Rac1 and calmodulin interactions modulate dynamics of ARF6-dependent endocytosis. Traffic 2011 12 12 1879 1896 2-s2.0-81055156781 10.1111/j.1600-0854.2011.01274.x
    • (2011) Traffic , vol.12 , Issue.12 , pp. 1879-1896
    • Vidal-Quadras, M.1    Gelabert-Baldrich, M.2    Soriano-Castell, D.3    Lladó, A.4    Rentero, C.5    Calvo, M.6    Pol, A.7    Enrich, C.8    Tebar, F.9
  • 40
    • 79958047890 scopus 로고    scopus 로고
    • The dual effect of Rac2 on phospholipase D2 regulation that explains both the onset and termination of chemotaxis
    • 2-s2.0-79958047890 10.1128/MCB.01348-10
    • Peng H.-J., Henkels K. M., Mahankali M., Marchal C., Bubulya P., Dinauer M. C., Gomez-Cambronero J., The dual effect of Rac2 on phospholipase D2 regulation that explains both the onset and termination of chemotaxis. Molecular and Cellular Biology 2011 31 11 2227 2240 2-s2.0-79958047890 10.1128/MCB.01348-10
    • (2011) Molecular and Cellular Biology , vol.31 , Issue.11 , pp. 2227-2240
    • Peng, H.-J.1    Henkels, K.M.2    Mahankali, M.3    Marchal, C.4    Bubulya, P.5    Dinauer, M.C.6    Gomez-Cambronero, J.7
  • 41
    • 84866606366 scopus 로고    scopus 로고
    • Fumarate hydratase inactivation in renal tumors: HIF1alpha, NRF2, and, "cryptic targets" of transcription factors
    • 10.5732/cjc.012.10102
    • Ooi A., Furge K. A., Fumarate hydratase inactivation in renal tumors: HIF1alpha, NRF2, and "cryptic targets" of transcription factors. Chinese Journal of Cancer 2012 31 413 420 10.5732/cjc.012.10102
    • (2012) Chinese Journal of Cancer , vol.31 , pp. 413-420
    • Ooi, A.1    Furge, K.A.2
  • 44
    • 0035976855 scopus 로고    scopus 로고
    • Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells
    • DOI 10.1016/S0014-5793(01)03140-4, PII S0014579301031404
    • Jiralerspong S., Ge B., Hudson T. J., Pandolfo M., Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells. FEBS Letters 2001 509 1 101 105 2-s2.0-0035976855 10.1016/S0014-5793(01)03140-4 (Pubitemid 33153089)
    • (2001) FEBS Letters , vol.509 , Issue.1 , pp. 101-105
    • Jiralerspong, S.1    Ge, B.2    Hudson, T.J.3    Pandolfo, M.4
  • 45
    • 84865656757 scopus 로고    scopus 로고
    • Therapeutic developments in Friedreich ataxia
    • 10.1177/0883073812449691
    • Wilson R. B., Therapeutic developments in Friedreich ataxia. Journal of Child Neurology 2012 27 1212 1216 10.1177/0883073812449691
    • (2012) Journal of Child Neurology , vol.27 , pp. 1212-1216
    • Wilson, R.B.1
  • 46
    • 0033000707 scopus 로고    scopus 로고
    • Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron- induced injury in vitro
    • Rustin P., Munnich A., Rötig A., Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro. BioFactors 1999 9 2-4 247 251 2-s2.0-0033000707 (Pubitemid 29289003)
    • (1999) BioFactors , vol.9 , Issue.2-4 , pp. 247-251
    • Rustin, P.1    Munnich, A.2    Rotig, A.3
  • 47
    • 84859241592 scopus 로고    scopus 로고
    • Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts
    • 2-s2.0-84859241592 10.1371/journal.pone.0034600 e34600
    • Richardson T. E., Yu A. E., Wen Y., Yang S.-H., Simpkins J. W., Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts. PLoS ONE 2012 7 4 2-s2.0-84859241592 10.1371/journal.pone.0034600 e34600
    • (2012) PLoS ONE , vol.7 , Issue.4
    • Richardson, T.E.1    Yu, A.E.2    Wen, Y.3    Yang, S.-H.4    Simpkins, J.W.5
  • 49
    • 0033533071 scopus 로고    scopus 로고
    • Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
    • DOI 10.1016/S0140-6736(99)01341-0
    • Rustin P., von Kleist-Retzow J.-C., Chantrel-Groussard K., Sidi D., Munnich A., Rötig A., Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. The Lancet 1999 354 9177 477 479 2-s2.0-0033533071 10.1016/S0140-6736(99)01341-0 (Pubitemid 29368927)
    • (1999) Lancet , vol.354 , Issue.9177 , pp. 477-479
    • Rustin, P.1    Von Kleist-Retzow, J.-C.2    Chantrel-Groussard, K.3    Sidi, D.4    Munnich, A.5    Rotig, A.6
  • 50
    • 0037398112 scopus 로고    scopus 로고
    • The use of antioxidants in Friedreich's ataxia treatment
    • DOI 10.1517/eoid.12.4.569.23756
    • Rustin P., The use of antioxidants in Friedreich's ataxia treatment. Expert Opinion on Investigational Drugs 2003 12 4 569 575 2-s2.0-0037398112 10.1517/eoid.12.4.569.23756 (Pubitemid 36512002)
    • (2003) Expert Opinion on Investigational Drugs , vol.12 , Issue.4 , pp. 569-575
    • Rustin, P.1
  • 51
    • 1042288143 scopus 로고    scopus 로고
    • Idebenone restores mitochondrial respatory chain enzyme activities in the cardiac muscle in Friedreich's ataxia
    • 10.1212/WNL.62.3.524
    • Rustin P., Bonnet D., Rotig A., Munnich A., Sidi D., Idebenone restores mitochondrial respatory chain enzyme activities in the cardiac muscle in Friedreich's ataxia. Neurology 2004 62 524 525 10.1212/WNL.62.3.524
    • (2004) Neurology , vol.62 , pp. 524-525
    • Rustin, P.1    Bonnet, D.2    Rotig, A.3    Munnich, A.4    Sidi, D.5
  • 52
    • 1842836406 scopus 로고    scopus 로고
    • A cellular model for Friedreich Ataxia revelas small-molecule glutathione peroxidase mimetics as novel treatment strategy
    • Jauslin M. L., Wirth T., Meier T., Schoumacher F., A cellular model for Friedreich ataxia revelas small-molecule glutathione peroxidase mimetics as novel treatment strategy. Human Molecular Genetics 2002 11 24 3055 3063 2-s2.0-1842836406 (Pubitemid 35414819)
    • (2002) Human Molecular Genetics , vol.11 , Issue.24 , pp. 3055-3063
    • Jauslin, M.L.1    Wirth, T.2    Meier, T.3    Schoumacher, F.4
  • 53
    • 79959404165 scopus 로고    scopus 로고
    • Estrogen protection in Friedreich's ataxia skin fibroblasts
    • 2-s2.0-79959404165 10.1210/en.2011-0184
    • Richardson T. E., Yang S.-H., Wen Y., Simpkins J. W., Estrogen protection in Friedreich's ataxia skin fibroblasts. Endocrinology 2011 152 7 2742 2749 2-s2.0-79959404165 10.1210/en.2011-0184
    • (2011) Endocrinology , vol.152 , Issue.7 , pp. 2742-2749
    • Richardson, T.E.1    Yang, S.-H.2    Wen, Y.3    Simpkins, J.W.4
  • 54
    • 67949124861 scopus 로고    scopus 로고
    • PPAR- γ agonist azelaoyl PAF increases frataxin protein and mRNA expression: New implications for the Friedreich's ataxia therapy
    • 2-s2.0-67949124861 10.1007/s12311-008-0087-z
    • Marmolino D., Acquaviva F., Pinelli M., Monticelli A., Castaldo I., Filla A., Cocozza S., PPAR- γ agonist azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy. Cerebellum 2009 8 2 98 103 2-s2.0-67949124861 10.1007/s12311-008-0087-z
    • (2009) Cerebellum , vol.8 , Issue.2 , pp. 98-103
    • Marmolino, D.1    Acquaviva, F.2    Pinelli, M.3    Monticelli, A.4    Castaldo, I.5    Filla, A.6    Cocozza, S.7
  • 55
    • 84875868055 scopus 로고    scopus 로고
    • A mitochondrial bioenergetic etiology of disease
    • 10.1172/JCI61398
    • Wallace D. C., A mitochondrial bioenergetic etiology of disease. The Journal of Clinical Investigation 2013 123 1405 1412 10.1172/JCI61398
    • (2013) The Journal of Clinical Investigation , vol.123 , pp. 1405-1412
    • Wallace, D.C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.