-
1
-
-
62549117369
-
Friedreich ataxia: The clinical picture
-
Pandolfo, M. (2009) Friedreich ataxia: the clinical picture. J. Neurol. 256 (Suppl. 1), 3-8
-
(2009)
J. Neurol
, vol.256
, Issue.SUPPL. 1
, pp. 3-8
-
-
Pandolfo, M.1
-
2
-
-
0035122450
-
Frataxin: Its role in iron metabolism and the pathogenesis of Friedreich's ataxia
-
Becker, E. and Richardson, D. R. (2001) Frataxin: its role in iron metabolism and the pathogenesis of Friedreich's ataxia. Int. J. Biochem. Cell Biol. 33, 1-10
-
(2001)
Int. J. Biochem. Cell Biol
, vol.33
, pp. 1-10
-
-
Becker, E.1
Richardson, D.R.2
-
3
-
-
0033864227
-
Clinical and genetic aspects of spinocerebellar degeneration
-
Durr, A. and Brice, A. (2000) Clinical and genetic aspects of spinocerebellar degeneration. Curr. Opin. Neurol. 13, 407-413
-
(2000)
Curr. Opin. Neurol
, vol.13
, pp. 407-413
-
-
Durr, A.1
Brice, A.2
-
4
-
-
62549107492
-
Multicellular models of Friedreich ataxia
-
Puccio, H. (2009) Multicellular models of Friedreich ataxia. J. Neurol. 256 (Suppl. 1), 18-24
-
(2009)
J. Neurol
, vol.256
, Issue.SUPPL. 1
, pp. 18-24
-
-
Puccio, H.1
-
5
-
-
70349504414
-
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant
-
Huang, M. L., Becker, E. M., Whitnall, M., Rahmanto, Y. S., Ponka, P. and Richardson, D. R. (2009) Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant. Proc. Natl. Acad. Sci. U.S.A. 106, 16381-16386
-
(2009)
Proc. Natl. Acad. Sci. U.S.A
, vol.106
, pp. 16381-16386
-
-
Huang, M.L.1
Becker, E.M.2
Whitnall, M.3
Rahmanto, Y.S.4
Ponka, P.5
Richardson, D.R.6
-
6
-
-
0037317490
-
Friedreich's ataxia: Iron chelators that target the mitochondrion as a therapeutic strategy?
-
Richardson, D. R. (2003) Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy? Expert Opin. Investig. Drugs 12, 235-245
-
(2003)
Expert Opin. Investig. Drugs
, vol.12
, pp. 235-245
-
-
Richardson, D.R.1
-
7
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman, D., Jenssen, K., Burnett, R., Soragni, E., Perlman, S. L. and Gottesfeld, J. M. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2, 551-558
-
(2006)
Nat. Chem. Biol
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
8
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: A European perspective
-
Schulz, J. B., Boesch, S., Burk, K., Durr, A., Giunti, P., Mariotti, C., Pousset, F., Schols, L., Vankan, P. and Pandolfo, M. (2009) Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat. Rev. Neurol. 5, 222-234
-
(2009)
Nat. Rev. Neurol
, vol.5
, pp. 222-234
-
-
Schulz, J.B.1
Boesch, S.2
Burk, K.3
Durr, A.4
Giunti, P.5
Mariotti, C.6
Pousset, F.7
Schols, L.8
Vankan, P.9
Pandolfo, M.10
-
9
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock, M., de Silva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M. and Kaplan, J. (1997) Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276, 1709-1712
-
(1997)
Science
, vol.276
, 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
-
10
-
-
0031253821
-
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. and Rustin, P. (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 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
-
11
-
-
0037188390
-
Physical evidence that yeast frataxin is an iron storage protein
-
Gakh, O., Adamec, J., Gacy, A. M., Twesten, R. D., Owen, W. G. and Isaya, G. (2002) Physical evidence that yeast frataxin is an iron storage protein. Biochemistry 41, 6798-6804
-
(2002)
Biochemistry
, vol.41
, pp. 6798-6804
-
-
Gakh, O.1
Adamec, J.2
Gacy, A.M.3
Twesten, R.D.4
Owen, W.G.5
Isaya, G.6
-
12
-
-
0034642203
-
Oxidative stress in patients with Friedreich ataxia
-
Schulz, J. B., Dehmer, T., Schols, L., Mende, H., Hardt, C., Vorgerd, M., Burk, K., Matson, W., Dichgans, J., Beal, M. F. and Bogdanov, M. B. (2000) Oxidative stress in patients with Friedreich ataxia. Neurology 55, 1719-1721
-
(2000)
Neurology
, vol.55
, pp. 1719-1721
-
-
Schulz, J.B.1
Dehmer, T.2
Schols, L.3
Mende, H.4
Hardt, C.5
Vorgerd, M.6
Burk, K.7
Matson, W.8
Dichgans, J.9
Beal, M.F.10
Bogdanov, M.B.11
-
13
-
-
29644448054
-
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice
-
Thierbach, R., Schulz, T. J., Isken, F., Voigt, A., Mietzner, B., Drewes, G., von Kleist-Retzow, J. C., Wiesner, R. J., Magnuson, M. A., Puccio, H. et al. (2005) Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice. Hum. Mol. Genet. 14, 3857-3864
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 3857-3864
-
-
Thierbach, R.1
Schulz, T.J.2
Isken, F.3
Voigt, A.4
Mietzner, B.5
Drewes, G.6
von Kleist-Retzow, J.C.7
Wiesner, R.J.8
Magnuson, M.A.9
Puccio, H.10
-
14
-
-
30744458144
-
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant
-
Vazquez-Manrique, R. P., Gonzalez-Cabo, P., Ros, S., Aziz, H., Baylis, H. A. and Palau, F. (2006) Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant. FASEB J. 20, 172-174
-
(2006)
FASEB J
, vol.20
, pp. 172-174
-
-
Vazquez-Manrique, R.P.1
Gonzalez-Cabo, P.2
Ros, S.3
Aziz, H.4
Baylis, H.A.5
Palau, F.6
-
15
-
-
3042763187
-
Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity
-
Bulteau, A. L., O'Neill, H. A., Kennedy, M. C., Ikeda-Saito, M., Isaya, G. and Szweda, L. I. (2004) Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 305, 242-245
-
(2004)
Science
, vol.305
, 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
-
-
0037613459
-
Iron-sulfur cluster biosynthesis: Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins
-
Yoon, T. and Cowan, J. A. (2003) Iron-sulfur cluster biosynthesis: characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. J. Am. Chem. Soc. 125, 6078-6084
-
(2003)
J. Am. Chem. Soc
, vol.125
, pp. 6078-6084
-
-
Yoon, T.1
Cowan, J.A.2
-
17
-
-
2942744572
-
Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis
-
Yoon, T. and Cowan, J. A. (2004) Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis. J. Biol. Chem. 279, 25943-25946
-
(2004)
J. Biol. Chem
, vol.279
, pp. 25943-25946
-
-
Yoon, T.1
Cowan, J.A.2
-
18
-
-
0033838364
-
Iron-dependent self-assembly of recombinant yeast frataxin: Implications for Friedreich ataxia
-
Adamec, J., Rusnak, F., Owen, W. G., Naylor, S., Benson, L. M., Gacy, A. M. and Isaya, G. (2000) Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Am. J. Hum. Genet. 67, 549-562
-
(2000)
Am. J. Hum. Genet
, vol.67
, pp. 549-562
-
-
Adamec, J.1
Rusnak, F.2
Owen, W.G.3
Naylor, S.4
Benson, L.M.5
Gacy, A.M.6
Isaya, G.7
-
19
-
-
9644279682
-
-
Aloria, K., Schilke, B., Andrew, A. and Craig, E. A. (2004) Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo. EMBO Rep. 5, 1096-1101
-
Aloria, K., Schilke, B., Andrew, A. and Craig, E. A. (2004) Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo. EMBO Rep. 5, 1096-1101
-
-
-
-
20
-
-
33947272031
-
Acidic residues of yeast frataxin have an essential role in Fe-S cluster assembly
-
Foury, F., Pastore, A. and Trincal, M. (2007) Acidic residues of yeast frataxin have an essential role in Fe-S cluster assembly. EMBO Rep. 8, 194-199
-
(2007)
EMBO Rep
, vol.8
, pp. 194-199
-
-
Foury, F.1
Pastore, A.2
Trincal, M.3
-
21
-
-
33746883937
-
Monomeric yeast frataxin is an iron-binding protein
-
Cook, J. D., Bencze, K. Z., Jankovic, A. D., Crater, A. K., Busch, C. N., Bradley, P. B., Stemmler, A. J., Spaller, M. R. and Stemmler, T. L. (2006) Monomeric yeast frataxin is an iron-binding protein. Biochemistry 45, 7767-7777
-
(2006)
Biochemistry
, vol.45
, pp. 7767-7777
-
-
Cook, J.D.1
Bencze, K.Z.2
Jankovic, A.D.3
Crater, A.K.4
Busch, C.N.5
Bradley, P.B.6
Stemmler, A.J.7
Spaller, M.R.8
Stemmler, T.L.9
-
22
-
-
46049102185
-
Drosophila frataxin: An iron chaperone during cellular Fe-S cluster bioassembly
-
Kondapalli, K. C., Kok, N. M., Dancis, A. and Stemmler, T. L. (2008) Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly. Biochemistry 47, 6917-6927
-
(2008)
Biochemistry
, vol.47
, pp. 6917-6927
-
-
Kondapalli, K.C.1
Kok, N.M.2
Dancis, A.3
Stemmler, T.L.4
-
23
-
-
11144265730
-
Yeast frataxin solution structure, iron binding, and ferrochelatase interaction
-
He, Y., Alam, S. L., Proteasa, S. V., Zhang, Y., Lesuisse, E., Dancis, A. and Stemmler, T. L. (2004) Yeast frataxin solution structure, iron binding, and ferrochelatase interaction. Biochemistry 43, 16254-16262
-
(2004)
Biochemistry
, vol.43
, pp. 16254-16262
-
-
He, Y.1
Alam, S.L.2
Proteasa, S.V.3
Zhang, Y.4
Lesuisse, E.5
Dancis, A.6
Stemmler, T.L.7
-
24
-
-
31544445770
-
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, J. A., Ferreira, G. C. and Isaya, G. (2006) Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Hum. Mol. Genet. 15, 467-479
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 467-479
-
-
Gakh, O.1
Park, S.2
Liu, G.3
Macomber, L.4
Imlay, J.A.5
Ferreira, G.C.6
Isaya, G.7
-
25
-
-
12944257432
-
Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family
-
Cho, S. J., Lee, M. G., Yang, J. K., Lee, J. Y., Song, H. K. and Suh, S. W. (2000) Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family. Proc. Natl. Acad. Sci. U.S.A. 97, 8932-8937
-
(2000)
Proc. Natl. Acad. Sci. U.S.A
, vol.97
, pp. 8932-8937
-
-
Cho, S.J.1
Lee, M.G.2
Yang, J.K.3
Lee, J.Y.4
Song, H.K.5
Suh, S.W.6
-
26
-
-
0034613233
-
Crystal structure of human frataxin
-
Dhe-Paganon, S., Shigeta, R., Chi, Y. I., Ristow, M. and Shoelson, S. E. (2000) Crystal structure of human frataxin. J. Biol. Chem. 275, 30753-30756
-
(2000)
J. Biol. Chem
, vol.275
, pp. 30753-30756
-
-
Dhe-Paganon, S.1
Shigeta, R.2
Chi, Y.I.3
Ristow, M.4
Shoelson, S.E.5
-
27
-
-
0033197094
-
13C resonances of the C-terminal domain of frataxin, the protein responsible for Friedreich ataxia
-
13C resonances of the C-terminal domain of frataxin, the protein responsible for Friedreich ataxia. J. Biomol. NMR 15, 87-88
-
(1999)
J. Biomol. NMR
, vol.15
, pp. 87-88
-
-
Musco, G.1
de Tommasi, T.2
Stier, G.3
Kolmerer, B.4
Bottomley, M.5
Adinolfi, S.6
Muskett, F.W.7
Gibson, T.J.8
Frenkiel, T.A.9
Pastore, A.10
-
28
-
-
7944225865
-
Solution structure of the bacterial frataxin ortholog, CyaY: Mapping the iron binding sites
-
Nair, M., Adinolfi, S., Pastore, C., Kelly, G., Temussi, P. and Pastore, A. (2004) Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites. Structure 12, 2037-2048
-
(2004)
Structure
, vol.12
, pp. 2037-2048
-
-
Nair, M.1
Adinolfi, S.2
Pastore, C.3
Kelly, G.4
Temussi, P.5
Pastore, A.6
-
29
-
-
0034661480
-
Towards a structural understanding of Friedreich's ataxia: The solution structure of frataxin
-
Musco, G., Stier, G., Kolmerer, B., Adinolfi, S., Martin, S., Frenkiel, T., Gibson, T. and Pastore, A. (2000) Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin. Structure 8, 695-707
-
(2000)
Structure
, vol.8
, pp. 695-707
-
-
Musco, G.1
Stier, G.2
Kolmerer, B.3
Adinolfi, S.4
Martin, S.5
Frenkiel, T.6
Gibson, T.7
Pastore, A.8
-
30
-
-
45549107531
-
Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, Isu
-
Wang, T. and Craig, E. A. (2008) Binding of yeast frataxin to the scaffold for Fe-S cluster biogenesis, Isu. J. Biol. Chem. 283, 12674-12679
-
(2008)
J. Biol. Chem
, vol.283
, pp. 12674-12679
-
-
Wang, T.1
Craig, E.A.2
-
31
-
-
0030798070
-
A set of vectors with a tetracycline-regulatable promoter system for modulated gene expression in Saccharomyces cerevisiae
-
Gari, E., Piedrafita, L., Aldea, M. and Herrero, E. (1997) A set of vectors with a tetracycline-regulatable promoter system for modulated gene expression in Saccharomyces cerevisiae. Yeast 13, 837-848
-
(1997)
Yeast
, vol.13
, pp. 837-848
-
-
Gari, E.1
Piedrafita, L.2
Aldea, M.3
Herrero, E.4
-
32
-
-
0032722872
-
Yeast mitochondrial protein, Nfs1p, coordinately regulates iron-sulfur cluster proteins, cellular iron uptake, and iron distribution
-
Li, J., Kogan, M., Knight, S. A., Pain, D. and Dancis, A. (1999) Yeast mitochondrial protein, Nfs1p, coordinately regulates iron-sulfur cluster proteins, cellular iron uptake, and iron distribution. J. Biol. Chem. 274, 33025-33034
-
(1999)
J. Biol. Chem
, vol.274
, pp. 33025-33034
-
-
Li, J.1
Kogan, M.2
Knight, S.A.3
Pain, D.4
Dancis, A.5
-
33
-
-
0024268186
-
70-kD heat shock-related protein is one of at least two distinct cytosolic factors stimulating protein import into mitochondria
-
Murakami, H., Pain, D. and Blobel, G. (1988) 70-kD heat shock-related protein is one of at least two distinct cytosolic factors stimulating protein import into mitochondria. J. Cell Biol. 107, 2051-2057
-
(1988)
J. Cell Biol
, vol.107
, pp. 2051-2057
-
-
Murakami, H.1
Pain, D.2
Blobel, G.3
-
34
-
-
13144249171
-
Conformational stability and thermodynamics of folding of ribonucleases Sa, Sa2 and Sa3
-
Pace, C. N., Hebert, E. J., Shaw, K. L., Schell, D., Both, V., Krajcikova, D., Sevcik, J., Wilson, K. S., Dauter, Z., Hartley, R. W. and Grimsley, G. R. (1998) Conformational stability and thermodynamics of folding of ribonucleases Sa, Sa2 and Sa3. J. Mol. Biol. 279, 271-286
-
(1998)
J. Mol. Biol
, vol.279
, pp. 271-286
-
-
Pace, C.N.1
Hebert, E.J.2
Shaw, K.L.3
Schell, D.4
Both, V.5
Krajcikova, D.6
Sevcik, J.7
Wilson, K.S.8
Dauter, Z.9
Hartley, R.W.10
Grimsley, G.R.11
-
35
-
-
50549100932
-
Dynamics, stability and iron-binding activity of frataxin clinical mutants
-
Correia, A. R., Pastore, C., Adinolfi, S., Pastore, A. and Gomes, C. M. (2008) Dynamics, stability and iron-binding activity of frataxin clinical mutants. FEBS J. 275, 3680-3690
-
(2008)
FEBS J
, vol.275
, pp. 3680-3690
-
-
Correia, A.R.1
Pastore, C.2
Adinolfi, S.3
Pastore, A.4
Gomes, C.M.5
-
36
-
-
33747621648
-
The structure and function of frataxin
-
Bencze, K. Z., Kondapalli, K. C., Cook, J. D., McMahon, S., Millan-Pacheco, C., Pastor, N. and Stemmler, T. L. (2006) The structure and function of frataxin. Crit. Rev. Biochem. Mol. Biol. 41, 269-291
-
(2006)
Crit. Rev. Biochem. Mol. Biol
, vol.41
, pp. 269-291
-
-
Bencze, K.Z.1
Kondapalli, K.C.2
Cook, J.D.3
McMahon, S.4
Millan-Pacheco, C.5
Pastor, N.6
Stemmler, T.L.7
-
37
-
-
33748745306
-
Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding
-
Correia, A. R., Adinolfi, S., Pastore, A. and Gomes, C. M. (2006) Conformational stability of human frataxin and effect of Friedreich's ataxia-related mutations on protein folding. Biochem. J. 398, 605-611
-
(2006)
Biochem. J
, vol.398
, pp. 605-611
-
-
Correia, A.R.1
Adinolfi, S.2
Pastore, A.3
Gomes, C.M.4
-
39
-
-
0346752172
-
Reduction in frataxin causes progressive accumulation of mitochondrial damage
-
Karthikeyan, G., Santos, J. H., Graziewicz, M. A., Copeland, W. C., Isaya, G., Van Houten, B. and Resnick, M. A. (2003) Reduction in frataxin causes progressive accumulation of mitochondrial damage. Hum. Mol. Genet. 12, 3331-3342
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 3331-3342
-
-
Karthikeyan, G.1
Santos, J.H.2
Graziewicz, M.A.3
Copeland, W.C.4
Isaya, G.5
Van Houten, B.6
Resnick, M.A.7
-
40
-
-
34447316711
-
Mitochondrial frataxin interacts with ISD11 of the Nfs1/ISCU complex and multiple mitochondrial chaperones
-
Shan, Y., Napoli, E. and Cortopassi, G. (2007) Mitochondrial frataxin interacts with ISD11 of the Nfs1/ISCU complex and multiple mitochondrial chaperones. Hum. Mol. Genet. 16, 929-941
-
(2007)
Hum. Mol. Genet
, vol.16
, pp. 929-941
-
-
Shan, Y.1
Napoli, E.2
Cortopassi, G.3
|