-
1
-
-
35449008450
-
Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues
-
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. Hum. Mol. Genet. 2007, 16, 2651-2658.
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 2651-2658
-
-
Martelli, A.1
Wattenhofer-Donzé, M.2
Schmucker, S.3
Bouvet, S.4
Reutenauer, L.5
Puccio, H.6
-
2
-
-
77951253200
-
The ins and outs of mitochondrial iron-loading: The metabolic defect in Friedreich's ataxia
-
Richardson, D. R.; Huang, M. L.; Whitnall, M.; Becker, E. M.; Ponka, P.; Suryo Rahmanto, Y. The ins and outs of mitochondrial iron-loading: The metabolic defect in Friedreich's ataxia. J. Mol. Med. 2010, 88, 323-329.
-
(2010)
J. Mol. Med
, vol.88
, pp. 323-329
-
-
Richardson, D.R.1
Huang, M.L.2
Whitnall, M.3
Becker, E.M.4
Ponka, P.5
Suryo Rahmanto, Y.6
-
3
-
-
77954930779
-
Friedreich ataxia: Molecular mechanisms, redox considerations, and therapeutic opportunities
-
Santos, R.; Lefevre, S.; Sliwa, D.; Seguin, A.; Camadro, J. M.; Lesuisse, E. Friedreich ataxia: Molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid. Redox Signal. 2010, 13, 651-690.
-
(2010)
Antioxid. Redox Signal
, vol.13
, pp. 651-690
-
-
Santos, R.1
Lefevre, S.2
Sliwa, D.3
Seguin, A.4
Camadro, J.M.5
Lesuisse, E.6
-
4
-
-
79551514731
-
Mammalian frataxin: An essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex
-
Schmucker, S.; Martelli, A.; Colin F.; Page, A.; Wattenhofer-Donzé, M.; Reutenauer, L.; Puccio, H. 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.
-
(2011)
PLoS One
, vol.6
-
-
Schmucker, S.1
Martelli, A.2
Colin, F.3
Page, A.4
Wattenhofer-Donzé, M.5
Reutenauer, L.6
Puccio, H.7
-
5
-
-
84858212583
-
HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis
-
Shan, Y.; Cortopassi, G. HSC20 interacts with frataxin and is involved in iron-sulfur cluster biogenesis and iron homeostasis. Hum. Mol. Genet. 2012, 21, 1457-1469.
-
(2012)
Hum. Mol. Genet
, vol.21
, pp. 1457-1469
-
-
Shan, Y.1
Cortopassi, G.2
-
6
-
-
1842836406
-
Cellular model for Friedreich ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy
-
Jauslin, M. L.; Wirth, T.; Meier, T.; Schoumacher, F. A. Cellular model for Friedreich ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy. Hum. Mol. Genet. 2002, 11, 3055-3063.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 3055-3063
-
-
Jauslin, M.L.1
Wirth, T.2
Meier, T.3
Schoumacher, F.A.4
-
7
-
-
14844337832
-
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: A decrease in antioxidative capacity?
-
Sturm, B.; Bistrich, U.; Schranzhofer, M.; Sarsero, J. P.; Rauen, U.; Scheiber-Mojdehkar, B.; de Groot, H.; Ioannou, P.; Petrat, F. Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: A decrease in antioxidative capacity? J. Biol. Chem. 2005, 280, 6701-6708.
-
(2005)
J. Biol. Chem
, vol.280
, pp. 6701-6708
-
-
Sturm, B.1
Bistrich, U.2
Schranzhofer, M.3
Sarsero, J.P.4
Rauen, U.5
Scheiber-Mojdehkar, B.6
de Groot, H.7
Ioannou, P.8
Petrat, F.9
-
8
-
-
0033054177
-
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.; Yang, J.; Cavadini, P.; Gellera, C.; Lonnerdal, B.; Taroni, F.; Cortopassi G. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum. Mol. Genet. 1999, 8, 425-430.
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 425-430
-
-
Wong, A.1
Yang, J.2
Cavadini, P.3
Gellera, C.4
Lonnerdal, B.5
Taroni, F.6
Cortopassi, G.7
-
9
-
-
76749143747
-
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: Cellular model of pathology
-
Haugen, A. C.; di Prospero, N. A.; Parker, J. S.; Fannin, R. D.; Chou, J.; Meyer, J. N.; Halweg, C.; Collins, J. B.; Durr, A.; Fischbeck, K.; et al. Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: Cellular model of pathology. PLoS Genet. 2010, 6, e1000812.
-
(2010)
PLoS Genet
, vol.6
-
-
Haugen, A.C.1
di Prospero, N.A.2
Parker, J.S.3
Fannin, R.D.4
Chou, J.5
Meyer, J.N.6
Halweg, C.7
Collins, J.B.8
Durr, A.9
Fischbeck, K.10
-
10
-
-
39149096860
-
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. The effects of frataxin silencing in HeLa cells are rescued by the expression of human mitochondrial ferritin. Biochim. Biophys. Acta 2008, 1782, 90-98.
-
(2008)
Biochim. Biophys. Acta
, vol.1782
, pp. 90-98
-
-
Zanella, I.1
Derosas, M.2
Corrado, M.3
Cocco, E.4
Cavadini, P.5
Biasiotto, G.6
Poli, M.7
Verardi, R.8
Arosio, P.9
-
11
-
-
0035445849
-
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
-
Santos, M. M.; Ohshima, K.; Pandolfo, M. Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. Hum. Mol. Genet. 2001, 10, 1935-1944.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 1935-1944
-
-
Santos, M.M.1
Ohshima, K.2
Pandolfo, M.3
-
12
-
-
67749148227
-
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia
-
Calmels, N.; Schmucker, S.; Wattenhofer-Donzé, M.; Martelli, A.; Vaucamps, N.; Reutenauer, L.; Messaddeq, N.; Bouton, C.; Koenig, M.; Puccio, H. The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia. PLoS One 2009, 4, e6379.
-
(2009)
PLoS One
, vol.4
-
-
Calmels, N.1
Schmucker, S.2
Wattenhofer-Donzé, M.3
Martelli, A.4
Vaucamps, N.5
Reutenauer, L.6
Messaddeq, N.7
Bouton, C.8
Koenig, M.9
Puccio, H.10
-
13
-
-
73349107807
-
Frataxin deficiency induces Schwann cell inflammation and death
-
Lu, C.; Schoenfeld, R.; Shan, Y.; Tsai, H. J.; Hammock, B.; Cortopassi, G. Frataxin deficiency induces Schwann cell inflammation and death. Biochim. Biophys. Acta 2009, 1792, 1052-1061.
-
(2009)
Biochim. Biophys. Acta
, vol.1792
, pp. 1052-1061
-
-
Lu, C.1
Schoenfeld, R.2
Shan, Y.3
Tsai, H.J.4
Hammock, B.5
Cortopassi, G.6
-
14
-
-
34250223092
-
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells
-
Napoli, E.; Morin, D.; Bernhardt, R.; Buckpitt, A.; Cortopassi G. Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells. Biochim. Biophys. Acta 2007, 1772, 773-780.
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 773-780
-
-
Napoli, E.1
Morin, D.2
Bernhardt, R.3
Buckpitt, A.4
Cortopassi, G.5
-
15
-
-
79959792756
-
Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells
-
Palomo, G. M.; Cerrato, T.; Gargini, R.; Diaz-Nido, J. Silencing of frataxin gene expression triggers p53-dependent apoptosis in human neuron-like cells. Hum. Mol. Genet. 2011, 20, 2807-2822.
-
(2011)
Hum. Mol. Genet
, vol.20
, pp. 2807-2822
-
-
Palomo, G.M.1
Cerrato, T.2
Gargini, R.3
Diaz-Nido, J.4
-
16
-
-
56049103058
-
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
-
Soragni, E.; Herman, D.; Dent, S. Y.; Gottesfeld, J. M.; Wells, R. D.; Napierala, M. Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res. 2008, 36, 6056-6065.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 6056-6065
-
-
Soragni, E.1
Herman, D.2
Dent, S.Y.3
Gottesfeld, J.M.4
Wells, R.D.5
Napierala, M.6
-
17
-
-
78049512763
-
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA*TTC triplet repeat instability
-
Ku, S.; Soragni, E.; Campau, E.; Thomas, E. A.; Altun, G.; Laurent, L. C.; Loring, J. F.; Napierala, M.; Gottesfeld, J. M. Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA*TTC triplet repeat instability. Cell Stem Cell 2010, 7, 631-637.
-
(2010)
Cell Stem Cell
, vol.7
, pp. 631-637
-
-
Ku, S.1
Soragni, E.2
Campau, E.3
Thomas, E.A.4
Altun, G.5
Laurent, L.C.6
Loring, J.F.7
Napierala, M.8
Gottesfeld, J.M.9
-
18
-
-
79960331887
-
Generation of induced pluripotent stem cell lines from Friedreich ataxia patients
-
Liu, J.; Verma, P. J.; Evans-Galea, M. V.; Delatycki, M. B.; Michalska, A.; Leung, J.; Crombie, D.; Sarsero, J. P.; Williamson, R.; Dottori, M.; et al. Generation of induced pluripotent stem cell lines from Friedreich ataxia patients. Stem Cell Rev. 2011, 7, 703-713.
-
(2011)
Stem Cell Rev
, vol.7
, pp. 703-713
-
-
Liu, J.1
Verma, P.J.2
Evans-Galea, M.V.3
Delatycki, M.B.4
Michalska, A.5
Leung, J.6
Crombie, D.7
Sarsero, J.P.8
Williamson, R.9
Dottori, M.10
-
19
-
-
84877830055
-
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
-
Hick, A.; Wattenhofer-Donzé, M.; Chintawar, S.; Tropel, P.; Simard, J. P.; Vaucamps, N.; Gall, D.; Lambot, L.; André, C.; Reutenauer, L.; et al. Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia. Dis. Model. Mech. 2013, 6, 608-621.
-
(2013)
Dis. Model. Mech
, vol.6
, pp. 608-621
-
-
Hick, A.1
Wattenhofer-Donzé, M.2
Chintawar, S.3
Tropel, P.4
Simard, J.P.5
Vaucamps, N.6
Gall, D.7
Lambot, L.8
André, C.9
Reutenauer, L.10
-
20
-
-
58849110632
-
The Nrf2/ARE pathway as a potential therapeutic target in neurodegenerative disease
-
Calkins, M. J.; Johnson, D. A.; Townsend, J. A.; Vargas, M. R.; Dowell, J. A.; Williamson, T. P.; Kraftm, A. D.; Lee, J. M.; Li, J.; Johnson, J. A. The Nrf2/ARE pathway as a potential therapeutic target in neurodegenerative disease. Antioxid. Redox Signal. 2009, 11, 497-508.
-
(2009)
Antioxid. Redox Signal
, vol.11
, pp. 497-508
-
-
Calkins, M.J.1
Johnson, D.A.2
Townsend, J.A.3
Vargas, M.R.4
Dowell, J.A.5
Williamson, T.P.6
Kraftm, A.D.7
Lee, J.M.8
Li, J.9
Johnson, J.A.10
-
21
-
-
84876310656
-
Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons
-
D'Oria, V.; Petrini, S.; Travaglini, L.; Priori, C.; Piermarini, E.; Petrillo, S.; Carletti, B.; Bertini, E.; Piemonte F. Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons. Int. J. Mol. Sci. 2013, 14, 7853-7865.
-
(2013)
Int. J. Mol. Sci
, vol.14
, pp. 7853-7865
-
-
D'Oria, V.1
Petrini, S.2
Travaglini, L.3
Priori, C.4
Piermarini, E.5
Petrillo, S.6
Carletti, B.7
Bertini, E.8
Piemonte, F.9
-
22
-
-
33749638768
-
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
-
Al-Mahdawi, S.; Pinto, R. M.; Varshney, D.; Lawrence, L.; Lowrie, M. B.; Hughes, S.; Webster, Z.; Blake, J.; Cooper, J. M.; King, R.; et al. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 2006, 88, 580-590.
-
(2006)
Genomics
, vol.88
, pp. 580-590
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Varshney, D.3
Lawrence, L.4
Lowrie, M.B.5
Hughes, S.6
Webster, Z.7
Blake, J.8
Cooper, J.M.9
King, R.10
-
23
-
-
77954447250
-
Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question
-
Armstrong, J. S.; Khdour, O.; Hecht, S. M. Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question. FASEB J. 2010, 24, 2152-2163.
-
(2010)
FASEB J
, vol.24
, pp. 2152-2163
-
-
Armstrong, J.S.1
Khdour, O.2
Hecht, S.M.3
-
24
-
-
0031253821
-
Aconitase and mitochondrial Fe/S protein deficiency in Friedreich ataxia
-
Rotig, A.; de Lonlay, P.; Chretien, D.; Foury, F.; Koenig, M.; Sidi, D.; Munnich, A.; Rustin, P. Aconitase and mitochondrial Fe/S protein deficiency in Friedreich ataxia. Nat. Genet. 1997, 17, 215-217.
-
(1997)
Nat. Genet
, vol.17
, pp. 215-217
-
-
Rotig, A.1
de Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
25
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit intramitochondrial cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by 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 intramitochondrial cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by iron deposits. Nat. Genet. 2001, 27, 181-186.
-
(2001)
Nat. Genet
, vol.27
, 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
-
26
-
-
50849135137
-
Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia
-
Auchère, F.; Santos, R.; Planamente, S.; Lesuisse, E.; Camadro, J. M. Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia. Hum. Mol. Genet. 2008, 17, 2790-2802.
-
(2008)
Hum. Mol. Genet
, vol.17
, pp. 2790-2802
-
-
Auchère, F.1
Santos, R.2
Planamente, S.3
Lesuisse, E.4
Camadro, J.M.5
-
27
-
-
34247188143
-
Oxidative stress and protease dysfunction in the yeast model of Friedreich ataxia
-
Bulteau, A. L.; Dancis, A.; Gareil, M.; Montagne, J. J.; Camadro, J. M.; Lesuisse, E. Oxidative stress and protease dysfunction in the yeast model of Friedreich ataxia. Free Radic. Biol. Med. 2007, 42, 1561-1570.
-
(2007)
Free Radic. Biol. Med
, vol.42
, pp. 1561-1570
-
-
Bulteau, A.L.1
Dancis, A.2
Gareil, M.3
Montagne, J.J.4
Camadro, J.M.5
Lesuisse, E.6
-
28
-
-
0142211205
-
Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: A potential role in the pathogenesis of the disease
-
Pastore, A.; Tozzi, G.; Gaeta, L. M.; Bertini, E.; Serafini, V.; di Cesare, S.; Bonetto, V.; Casoni, F.; Carrozzo, R.; Federici, G.; et al. Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: A potential role in the pathogenesis of the disease. J. Biol. Chem. 2003, 278, 42588-42595.
-
(2003)
J. Biol. Chem
, vol.278
, 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
-
29
-
-
0035780208
-
Glutathione in blood of patients with Friedreich's ataxia
-
Piemonte, F.; Pastore, A.; Tozzi, G.; Tagliacozzi, D.; Santorelli, F. M.; Carrozzo, R.; Casali, C.; Damiano, M.; Federici, G.; Bertini E. Glutathione in blood of patients with Friedreich's ataxia. Eur. J. Clin. Investig. 2001, 31, 1007-1011.
-
(2001)
Eur. J. Clin. Investig
, vol.31
, pp. 1007-1011
-
-
Piemonte, F.1
Pastore, A.2
Tozzi, G.3
Tagliacozzi, D.4
Santorelli, F.M.5
Carrozzo, R.6
Casali, C.7
Damiano, M.8
Federici, G.9
Bertini, E.10
-
30
-
-
0034642214
-
Increased levels of plasma malondialdehyde in Friedreich ataxia
-
Edmond, M.; Lepage, G.; Vanasse, M.; Pandolfo, M. Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology 2000, 55, 1752-1753.
-
(2000)
Neurology
, vol.55
, pp. 1752-1753
-
-
Edmond, M.1
Lepage, G.2
Vanasse, M.3
Pandolfo, M.4
-
31
-
-
0034642203
-
Oxidative stress in patients with Friedreich ataxia
-
Schulz, J. B.; Dehmar, T.; Schols, L.; Mende, H.; Hardt, C.; Vorgerd, M.; Bürk, K.; Matson, W.; Dichgans, J.; Beal, M. F.; et al. Oxidative stress in patients with Friedreich ataxia. Neurology 2000, 55, 1719-1721.
-
(2000)
Neurology
, vol.55
, pp. 1719-1721
-
-
Schulz, J.B.1
Dehmar, T.2
Schols, L.3
Mende, H.4
Hardt, C.5
Vorgerd, M.6
Bürk, K.7
Matson, W.8
Dichgans, J.9
Beal, M.F.10
-
32
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: A European perspective
-
Schulz, J. B.; Boesch, S.; Bürk, K.; Dürr, A.; Giunti, P.; Mariotti, C.; Pousset, F.; Schöls, L.; Vankan, P.; Pandolfo, M. Diagnosis and treatment of Friedreich ataxia: A European perspective. Nat. Rev. Neurol. 2009, 5, 222-234.
-
(2009)
Nat. Rev. Neurol
, vol.5
, pp. 222-234
-
-
Schulz, J.B.1
Boesch, S.2
Bürk, K.3
Dürr, A.4
Giunti, P.5
Mariotti, C.6
Pousset, F.7
Schöls, L.8
Vankan, P.9
Pandolfo, M.10
-
33
-
-
84876314544
-
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model
-
Shan, Y.; Schoenfeld, R. A.; Hayashi, G.; Napoli, E.; Akiyama, T.; Iodi Carstens, M.; Carstens, E. E.; Pook, M. A.; Cortopassi, G. A. 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, 1481-1493.
-
(2013)
Antioxid. Redox Signal
, vol.19
, pp. 1481-1493
-
-
Shan, Y.1
Schoenfeld, R.A.2
Hayashi, G.3
Napoli, E.4
Akiyama, T.5
Iodi Carstens, M.6
Carstens, E.E.7
Pook, M.A.8
Cortopassi, G.A.9
-
34
-
-
20444497908
-
Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia
-
Calabrese, V.; Lodi, R.; Tonon, C.; D'Agata, V.; Sapienza, M.; Scapagnini, G.; Mangiameli, A.; Pennisi, G.; Stella, A. M.; Butterfield, D. A. Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. J. Neurol. Sci. 2005, 233, 145-162.
-
(2005)
J. Neurol. Sci
, vol.233
, pp. 145-162
-
-
Calabrese, V.1
Lodi, R.2
Tonon, C.3
D'Agata, V.4
Sapienza, M.5
Scapagnini, G.6
Mangiameli, A.7
Pennisi, G.8
Stella, A.M.9
Butterfield, D.A.10
-
35
-
-
33646687948
-
Friedreich's ataxia: From disease mechanisms to therapeutic interventions
-
Lodi, R.; Tonon, C.; Calabrese, V.; Schapira, A. H. Friedreich's ataxia: From disease mechanisms to therapeutic interventions. Antioxid. Redox Signal. 2006, 8, 438-443.
-
(2006)
Antioxid. Redox Signal
, vol.8
, pp. 438-443
-
-
Lodi, R.1
Tonon, C.2
Calabrese, V.3
Schapira, A.H.4
-
36
-
-
33846794302
-
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
-
Llorens, J. V.; Navarro, J. A.; Martínez-Sebastián, M. J.; Baylies, M. K.; Schneuwly, S.; Botella, J. A.; Moltó, M. D. Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. FASEB J. 2007, 21, 333-344.
-
(2007)
FASEB J
, vol.21
, pp. 333-344
-
-
Llorens, J.V.1
Navarro, J.A.2
Martínez-Sebastián, M.J.3
Baylies, M.K.4
Schneuwly, S.5
Botella, J.A.6
Moltó, M.D.7
-
37
-
-
80052267975
-
Effect of protein glutathionylation on neuronal cytoskeleton: A potential link to neurodegeneration
-
Carletti, B.; Passarelli, C.; Sparaco, M.; Tozzi, G.; Pastore, A.; Bertini, E.; Piemonte, F. Effect of protein glutathionylation on neuronal cytoskeleton: A potential link to neurodegeneration. Neuroscience 2011, 192, 285-294.
-
(2011)
Neuroscience
, vol.192
, pp. 285-294
-
-
Carletti, B.1
Passarelli, C.2
Sparaco, M.3
Tozzi, G.4
Pastore, A.5
Bertini, E.6
Piemonte, F.7
-
38
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
Bradley, J. L.; Blake, J. C.; Chamberlain, S.; Thomas, P. K.; Cooper, J. M.; Schapira, A. H. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum. Mol. Genet. 2000, 9, 275-282.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 275-282
-
-
Bradley, J.L.1
Blake, J.C.2
Chamberlain, S.3
Thomas, P.K.4
Cooper, J.M.5
Schapira, A.H.6
-
39
-
-
61349114947
-
Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia
-
Heidari, M. M.; Houshmand, M.; Hosseinkhani, S.; Nafissi, S.; Khatami, M. Complex I and ATP content deficiency in lymphocytes from Friedreich's ataxia. Can. J. Neurol. Sci. 2009, 36, 26-31.
-
(2009)
Can. J. Neurol. Sci
, vol.36
, pp. 26-31
-
-
Heidari, M.M.1
Houshmand, M.2
Hosseinkhani, S.3
Nafissi, S.4
Khatami, M.5
-
40
-
-
0037490142
-
Reversible glutathionylation of Complex I increases mitochondrial superoxide formation
-
Taylor, E. R.; Hurrell, F.; Shannon, R. J.; Lin, T. K.; Hirst, J.; Murphy, M. P. Reversible glutathionylation of Complex I increases mitochondrial superoxide formation. J. Biol. Chem. 2003, 278, 19603-19610.
-
(2003)
J. Biol. Chem
, vol.278
, pp. 19603-19610
-
-
Taylor, E.R.1
Hurrell, F.2
Shannon, R.J.3
Lin, T.K.4
Hirst, J.5
Murphy, M.P.6
-
41
-
-
46349093680
-
Mammalian Complex I: A regulable and vulnerable pacemaker in mitochondrial respiratory function
-
Papa, S.; de Rasmo, D.; Scacco, S.; Signorile, A.; Technikova-Dobrova, Z.; Palmisano, G.; Sardanelli, A. M.; Papa, F.; Panelli, D.; Scaringi, R.; et al. Mammalian Complex I: A regulable and vulnerable pacemaker in mitochondrial respiratory function. Biochim. Biophys. Acta 2008, 1777, 719-728.
-
(2008)
Biochim. Biophys. Acta
, vol.1777
, pp. 719-728
-
-
Papa, S.1
de Rasmo, D.2
Scacco, S.3
Signorile, A.4
Technikova-Dobrova, Z.5
Palmisano, G.6
Sardanelli, A.M.7
Papa, F.8
Panelli, D.9
Scaringi, R.10
-
42
-
-
84856741245
-
Posttranslational modification of cysteine in redox signaling and oxidative stress: Focus on S-glutathionylation
-
Mieyal, J. J.; Chock, P. B. Posttranslational modification of cysteine in redox signaling and oxidative stress: Focus on S-glutathionylation. Antioxid. Redox Signal. 2012, 16, 471-475.
-
(2012)
Antioxid. Redox Signal
, vol.16
, pp. 471-475
-
-
Mieyal, J.J.1
Chock, P.B.2
-
43
-
-
84856745322
-
Mechanisms of altered redox regulation in neurodegenerative diseases-focus on S-glutathionylation
-
Sabens Liedhegner, E. A.; Gao, X. H.; Mieyal, J. J. Mechanisms of altered redox regulation in neurodegenerative diseases-focus on S-glutathionylation. Antioxid. Redox Signal. 2012, 16, 543-566.
-
(2012)
Antioxid. Redox Signal
, vol.16
, pp. 543-566
-
-
Sabens Liedhegner, E.A.1
Gao, X.H.2
Mieyal, J.J.3
-
44
-
-
84861182619
-
S-Glutathionylation signaling in cell biology: Progress and prospects
-
Pastore, A.; Piemonte, F. S-Glutathionylation signaling in cell biology: Progress and prospects. Eur. J. Pharm. Sci. 2012, 46, 279-292.
-
(2012)
Eur. J. Pharm. Sci
, vol.46
, pp. 279-292
-
-
Pastore, A.1
Piemonte, F.2
-
45
-
-
0035893961
-
The actin cytoskeleton responses to oxidants: From small heat shock protein phosphorylation to changes in the redox state of actin itself
-
Dalle-Donne, I.; Rossi, R.; Milzani, A.; di Simplicio, P.; Colombo, R. The actin cytoskeleton responses to oxidants: From small heat shock protein phosphorylation to changes in the redox state of actin itself. Free Radic. Biol. Med. 2001, 31, 1624-1632.
-
(2001)
Free Radic. Biol. Med
, vol.31
, pp. 1624-1632
-
-
Dalle-Donne, I.1
Rossi, R.2
Milzani, A.3
di Simplicio, P.4
Colombo, R.5
-
46
-
-
70350622327
-
Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities
-
Sparaco, M.; Gaeta, L. M.; Santorelli, F. M.; Passarelli, C.; Tozzi, G.; Bertini, E.; Simonati, A.; Scaravilli, F.; Taroni, F.; Duyckaerts, C.; et al. Friedreich's ataxia: Oxidative stress and cytoskeletal abnormalities. J. Neurol. Sci. 2009, 287, 111-118.
-
(2009)
J. Neurol. Sci
, vol.287
, pp. 111-118
-
-
Sparaco, M.1
Gaeta, L.M.2
Santorelli, F.M.3
Passarelli, C.4
Tozzi, G.5
Bertini, E.6
Simonati, A.7
Scaravilli, F.8
Taroni, F.9
Duyckaerts, C.10
-
47
-
-
31844438837
-
Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals
-
Sparaco, M.; Gaeta, L. M.; Tozzi, G.; Bertini, E.; Pastore, A.; Simonati, A.; Santorelli, F. M.; Piemonte, F. Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals. J. Neurosci. Res. 2006, 83, 256-263.
-
(2006)
J. Neurosci. Res
, vol.83
, pp. 256-263
-
-
Sparaco, M.1
Gaeta, L.M.2
Tozzi, G.3
Bertini, E.4
Pastore, A.5
Simonati, A.6
Santorelli, F.M.7
Piemonte, F.8
-
48
-
-
3042713271
-
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
-
Pianese, L.; Turano, M.; lo Casale, M. S.; de Biase, I.; Giacchetti, M.; Monticelli, A.; Criscuolo, C.; Filla, A.; Cocozza, S. Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers. J. Neurol. Neurosurg. Psychiatry 2004, 75, 1061-1063.
-
(2004)
J. Neurol. Neurosurg. Psychiatry
, vol.75
, pp. 1061-1063
-
-
Pianese, L.1
Turano, M.2
lo Casale, M.S.3
de Biase, I.4
Giacchetti, M.5
Monticelli, A.6
Criscuolo, C.7
Filla, A.8
Cocozza, S.9
-
49
-
-
0042663893
-
Iron metabolism in mice with partial frataxin deficiency
-
Santos, M. M.; Miranda, C. J.; Levy, J. E.; Montross, L. K.; Cossée, M.; Sequeiros, J.; Andrews, N.; Koenig, M.; Pandolfo, M. Iron metabolism in mice with partial frataxin deficiency. Cerebellum 2003, 2, 146-153.
-
(2003)
Cerebellum
, vol.2
, pp. 146-153
-
-
Santos, M.M.1
Miranda, C.J.2
Levy, J.E.3
Montross, L.K.4
Cossée, M.5
Sequeiros, J.6
Andrews, N.7
Koenig, M.8
Pandolfo, M.9
-
50
-
-
33646162871
-
Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration
-
Coppola, G.; Choi, S. H.; Santos, M. M.; Miranda, C. J.; Tentler, D.; Wexler, E. M.; Pandolfo, M.; Geschwind, D. H. Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiol. Dis. 2006, 22, 302-311.
-
(2006)
Neurobiol. Dis
, vol.22
, pp. 302-311
-
-
Coppola, G.1
Choi, S.H.2
Santos, M.M.3
Miranda, C.J.4
Tentler, D.5
Wexler, E.M.6
Pandolfo, M.7
Geschwind, D.H.8
-
51
-
-
67249133451
-
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich's ataxia
-
Coppola, G.; Marmolino, D.; Lu, D.; Wang, Q.; Cnop, M.; Rai, M.; Acquaviva, F.; Cocozza, S.; Pandolfo, M.; Geschwind, D. H. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich's ataxia. Hum. Mol. Genet. 2009, 18, 2452-2461.
-
(2009)
Hum. Mol. Genet
, vol.18
, pp. 2452-2461
-
-
Coppola, G.1
Marmolino, D.2
Lu, D.3
Wang, Q.4
Cnop, M.5
Rai, M.6
Acquaviva, F.7
Cocozza, S.8
Pandolfo, M.9
Geschwind, D.H.10
-
52
-
-
83255193054
-
A gene expression phenotype in lymphocytes from Friedreich ataxia patients
-
Coppola, G.; Burnett, R.; Perlman, S.; Versano, R.; Gao, F.; Plasterer, H.; Rai, M.; Saccá, F.; Filla, A.; Lynch, D. R.; et al. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann. Neurol. 2011, 70, 790-804.
-
(2011)
Ann. Neurol
, vol.70
, pp. 790-804
-
-
Coppola, G.1
Burnett, R.2
Perlman, S.3
Versano, R.4
Gao, F.5
Plasterer, H.6
Rai, M.7
Saccá, F.8
Filla, A.9
Lynch, D.R.10
-
53
-
-
27644436787
-
Second-generation shRNA libraries covering the mouse and human genomes
-
Silva, J. M.; Li, M. Z.; Chang, K.; Ge, W.; Golding, M. C.; Rickles, R. J.; Siolas, D.; Hu, G.; Paddison, P. J.; Schlabach, M. R.; et al. Second-generation shRNA libraries covering the mouse and human genomes. Nat. Genet. 2005, 37, 1281-1288.
-
(2005)
Nat. Genet
, vol.37
, pp. 1281-1288
-
-
Silva, J.M.1
Li, M.Z.2
Chang, K.3
Ge, W.4
Golding, M.C.5
Rickles, R.J.6
Siolas, D.7
Hu, G.8
Paddison, P.J.9
Schlabach, M.R.10
-
54
-
-
77954744310
-
GSSG-mediated complex I defect in isolated cardiac mitochondria
-
Passarelli, C.; Tozzi, G.; Pastore, A.; Bertini, E.; Piemonte, F. GSSG-mediated complex I defect in isolated cardiac mitochondria. Int. J. Mol. Med. 2010, 26, 95-99.
-
(2010)
Int. J. Mol. Med
, vol.26
, pp. 95-99
-
-
Passarelli, C.1
Tozzi, G.2
Pastore, A.3
Bertini, E.4
Piemonte, F.5
-
55
-
-
0034911738
-
Determination of blood total, reduced, and oxidized glutathione in pediatric subjects
-
Pastore, A.; Piemonte, F.; Locatelli, M.; lo Russo, A.; Gaeta, L. M.; Tozzi, G.; Federici, G. Determination of blood total, reduced, and oxidized glutathione in pediatric subjects. Clin. Chem. 2001, 47, 1467-1469.
-
(2001)
Clin. Chem
, vol.47
, pp. 1467-1469
-
-
Pastore, A.1
Piemonte, F.2
Locatelli, M.3
lo Russo, A.4
Gaeta, L.M.5
Tozzi, G.6
Federici, G.7
-
56
-
-
0036024975
-
Blue Native electrophoresis to study mitochondrial and other protein complexes
-
Nijtmans, L. G.; Henderson, N. S.; Holt, I. J. Blue Native electrophoresis to study mitochondrial and other protein complexes. Methods 2002, 26, 327-334.
-
(2002)
Methods
, vol.26
, pp. 327-334
-
-
Nijtmans, L.G.1
Henderson, N.S.2
Holt, I.J.3
-
57
-
-
84889657597
-
Induced pluripotent stem cells from friedreich ataxia patients fail to upregulate frataxin during in vitro differentiation to peripheral sensory neurons
-
Eigentler, A.; Boesch, S.; Schneider, R.; Dechant, G.; Nat, R. Induced pluripotent stem cells from friedreich ataxia patients fail to upregulate frataxin during in vitro differentiation to peripheral sensory neurons. Stem Cells Dev. 2013, 22, 3271-3282.
-
(2013)
Stem Cells Dev
, vol.22
, pp. 3271-3282
-
-
Eigentler, A.1
Boesch, S.2
Schneider, R.3
Dechant, G.4
Nat, R.5
-
58
-
-
84896741146
-
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models
-
Sandi, C.; Sandi, M.; Jassal, H.; Ezzatizadeh, V.; Anjomani-Virmouni, S.; Al-Mahdawi, S.; Pook, M. A. Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models. PLoS One 2014, 9, e89488.
-
(2014)
PLoS One
, vol.9
-
-
Sandi, C.1
Sandi, M.2
Jassal, H.3
Ezzatizadeh, V.4
Anjomani-Virmouni, S.5
Al-Mahdawi, S.6
Pook, M.A.7
|