-
1
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Montermini L., Molto M.D., Pianese L., Cossee M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A., Zara F., Canizares J., Koutnikova H., Bidichandani S.I., Gellera C., Brice A., Trouillas P., De Michele G., Filla A., De Frutos R., Palau F., Patel P.I., Di Donato S., Mandel J.L., Cocozza S., Koenig M., and Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
2
-
-
33746795976
-
DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia
-
Burnett R., Melander C., Puckett J.W., Son L.S., Wells R.D., Dervan P.B., and Gottesfeld J.M. DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia. Proc. Natl. Acad. Sci. USA 103 (2006) 11497-11502
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 11497-11502
-
-
Burnett, R.1
Melander, C.2
Puckett, J.W.3
Son, L.S.4
Wells, R.D.5
Dervan, P.B.6
Gottesfeld, J.M.7
-
3
-
-
1342325427
-
Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene
-
Napierala M., Dere R., Vetcher A., and Wells R.D. Structure-dependent recombination hot spot activity of GAA.TTC sequences from intron 1 of the Friedreich's ataxia gene. J. Biol. Chem. 279 (2004) 6444-6454
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 6444-6454
-
-
Napierala, M.1
Dere, R.2
Vetcher, A.3
Wells, R.D.4
-
4
-
-
33745243698
-
Sticky DNA: in vivo formation in E. coli and in vitro association of long GAA*TTC tracts to generate two independent supercoiled domains
-
Son L.S., Bacolla A., and Wells R.D. Sticky DNA: in vivo formation in E. coli and in vitro association of long GAA*TTC tracts to generate two independent supercoiled domains. J. Mol. Biol. 360 (2006) 267-284
-
(2006)
J. Mol. Biol.
, vol.360
, pp. 267-284
-
-
Son, L.S.1
Bacolla, A.2
Wells, R.D.3
-
5
-
-
0037464584
-
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
-
Saveliev A., Everett C., Sharpe T., Webster Z., and Festenstein R. DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 422 (2003) 909-913
-
(2003)
Nature
, vol.422
, pp. 909-913
-
-
Saveliev, A.1
Everett, C.2
Sharpe, T.3
Webster, Z.4
Festenstein, R.5
-
6
-
-
28844495048
-
Heterochromatin protein 1: a pervasive controlling influence
-
Hiragami K., and Festenstein R. Heterochromatin protein 1: a pervasive controlling influence. Cell Mol. Life Sci. 62 (2005) 2711-2726
-
(2005)
Cell Mol. Life Sci.
, vol.62
, pp. 2711-2726
-
-
Hiragami, K.1
Festenstein, R.2
-
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. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2 (2006) 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
-
-
33846308499
-
Infectious Delivery and Expression of a 135 kb Human FRDA Genomic DNA Locus Complements Friedreich's Ataxia Deficiency in Human Cells
-
Gomez-Sebastian S., Gimenez-Cassina A., Diaz-Nido J., Lim F., and Wade-Martins R. Infectious Delivery and Expression of a 135 kb Human FRDA Genomic DNA Locus Complements Friedreich's Ataxia Deficiency in Human Cells. Mol. Ther. 15 (2007) 248-254
-
(2007)
Mol. Ther.
, vol.15
, pp. 248-254
-
-
Gomez-Sebastian, S.1
Gimenez-Cassina, A.2
Diaz-Nido, J.3
Lim, F.4
Wade-Martins, R.5
-
9
-
-
29644442275
-
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells
-
Schoenfeld R.A., Napoli E., Wong A., Zhan S., Reutenauer L., Morin D., Buckpitt A.R., Taroni F., Lonnerdal B., Ristow M., Puccio H., and Cortopassi G.A. Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells. Hum. Mol. Genet. 14 (2005) 3787-3799
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3787-3799
-
-
Schoenfeld, R.A.1
Napoli, E.2
Wong, A.3
Zhan, S.4
Reutenauer, L.5
Morin, D.6
Buckpitt, A.R.7
Taroni, F.8
Lonnerdal, B.9
Ristow, M.10
Puccio, H.11
Cortopassi, G.A.12
-
10
-
-
9744248303
-
Iron-sulfur protein maturation in human cells: evidence for a function of frataxin
-
Stehling O., Elsasser H.P., Bruckel B., Muhlenhoff U., and Lill R. Iron-sulfur protein maturation in human cells: evidence for a function of frataxin. Hum. Mol. Genet. 13 (2004) 3007-3015
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 3007-3015
-
-
Stehling, O.1
Elsasser, H.P.2
Bruckel, B.3
Muhlenhoff, U.4
Lill, R.5
-
11
-
-
1642573170
-
Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae
-
Ramazzotti A., Vanmansart V., and Foury F. Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae. FEBS Lett. 557 (2004) 215-220
-
(2004)
FEBS Lett.
, vol.557
, pp. 215-220
-
-
Ramazzotti, A.1
Vanmansart, V.2
Foury, F.3
-
12
-
-
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. 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 (2003) 6078-6084
-
(2003)
J. Am. Chem. Soc.
, vol.125
, pp. 6078-6084
-
-
Yoon, T.1
Cowan, J.A.2
-
13
-
-
2942744572
-
Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis
-
Yoon T., and Cowan J.A. Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis. J. Biol. Chem. 279 (2004) 25943-25946
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 25943-25946
-
-
Yoon, T.1
Cowan, J.A.2
-
14
-
-
21244448393
-
Frataxin and mitochondrial carrier proteins, Mrs3p and Mrs4p, cooperate in providing iron for heme synthesis
-
Zhang Y., Lyver E.R., Knight S.A., Lesuisse E., and Dancis A. Frataxin and mitochondrial carrier proteins, Mrs3p and Mrs4p, cooperate in providing iron for heme synthesis. J. Biol. Chem. 280 (2005) 19794-19807
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 19794-19807
-
-
Zhang, Y.1
Lyver, E.R.2
Knight, S.A.3
Lesuisse, E.4
Dancis, A.5
-
15
-
-
2242453224
-
Characterization of iron-sulfur protein assembly in isolated mitochondria. A requirement for ATP, NADH, and reduced iron
-
Muhlenhoff U., Richhardt N., Gerber J., and Lill R. Characterization of iron-sulfur protein assembly in isolated mitochondria. A requirement for ATP, NADH, and reduced iron. J. Biol. Chem. 277 (2002) 29810-29816
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 29810-29816
-
-
Muhlenhoff, U.1
Richhardt, N.2
Gerber, J.3
Lill, R.4
-
16
-
-
0141737067
-
Components involved in assembly and dislocation of iron-sulfur clusters on the scaffold protein Isu1p
-
Muhlenhoff U., Gerber J., Richhardt N., and Lill R. Components involved in assembly and dislocation of iron-sulfur clusters on the scaffold protein Isu1p. Embo J. 22 (2003) 4815-4825
-
(2003)
Embo J.
, vol.22
, pp. 4815-4825
-
-
Muhlenhoff, U.1
Gerber, J.2
Richhardt, N.3
Lill, R.4
-
17
-
-
0037447390
-
Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1)
-
Lesuisse E., Santos R., Matzanke B.F., Knight S.A., Camadro J.M., and Dancis A. Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1). Hum. Mol. Genet. 12 (2003) 879-889
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 879-889
-
-
Lesuisse, E.1
Santos, R.2
Matzanke, B.F.3
Knight, S.A.4
Camadro, J.M.5
Dancis, A.6
-
18
-
-
0042232045
-
Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation
-
Park S., Gakh O., O'Neill H.A., Mangravita A., Nichol H., Ferreira G.C., and Isaya G. Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation. J. Biol. Chem. 278 (2003) 31340-31351
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 31340-31351
-
-
Park, S.1
Gakh, O.2
O'Neill, H.A.3
Mangravita, A.4
Nichol, H.5
Ferreira, G.C.6
Isaya, G.7
-
19
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
Foury F., and Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 411 (1997) 373-377
-
(1997)
FEBS Lett.
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
20
-
-
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. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276 (1997) 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
-
21
-
-
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. Physical evidence that yeast frataxin is an iron storage protein. Biochemistry 41 (2002) 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
-
22
-
-
12144274441
-
Assembly of human frataxin is a mechanism for detoxifying redox-active iron
-
O'Neill H.A., Gakh O., Park S., Cui J., Mooney S.M., Sampson M., Ferreira G.C., and Isaya G. Assembly of human frataxin is a mechanism for detoxifying redox-active iron. Biochemistry 44 (2005) 537-545
-
(2005)
Biochemistry
, vol.44
, pp. 537-545
-
-
O'Neill, H.A.1
Gakh, O.2
Park, S.3
Cui, J.4
Mooney, S.M.5
Sampson, M.6
Ferreira, G.C.7
Isaya, G.8
-
23
-
-
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. Mitochondrial iron detoxification is a primary function of frataxin that limits oxidative damage and preserves cell longevity. Hum. Mol. Genet. 15 (2006) 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
-
24
-
-
33749265843
-
The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron
-
Karlberg T., Schagerlof U., Gakh O., Park S., Ryde U., Lindahl M., Leath K., Garman E., Isaya G., and Al-Karadaghi S. The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron. Structure 14 (2006) 1535-1546
-
(2006)
Structure
, vol.14
, pp. 1535-1546
-
-
Karlberg, T.1
Schagerlof, U.2
Gakh, O.3
Park, S.4
Ryde, U.5
Lindahl, M.6
Leath, K.7
Garman, E.8
Isaya, G.9
Al-Karadaghi, S.10
-
25
-
-
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. Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Am. J. Hum. Genet. 67 (2000) 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
-
26
-
-
0034778392
-
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
-
Chantrel-Groussard K., Geromel V., Puccio H., Koenig M., Munnich A., Rotig A., and Rustin P. Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Hum. Mol. Genet. 10 (2001) 2061-2067
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2061-2067
-
-
Chantrel-Groussard, K.1
Geromel, V.2
Puccio, H.3
Koenig, M.4
Munnich, A.5
Rotig, A.6
Rustin, P.7
-
27
-
-
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. Reduction in frataxin causes progressive accumulation of mitochondrial damage. Hum. Mol. Genet. 12 (2003) 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
-
28
-
-
0037093531
-
The mitochondrial protein frataxin prevents nuclear damage
-
Karthikeyan G., Lewis L.K., and Resnick M.A. The mitochondrial protein frataxin prevents nuclear damage. Hum. Mol. Genet. 11 (2002) 1351-1362
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1351-1362
-
-
Karthikeyan, G.1
Lewis, L.K.2
Resnick, M.A.3
-
29
-
-
0141623560
-
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1
-
Gerber J., Muhlenhoff U., and Lill R. An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1. EMBO Rep. 4 (2003) 906-911
-
(2003)
EMBO Rep.
, vol.4
, pp. 906-911
-
-
Gerber, J.1
Muhlenhoff, U.2
Lill, R.3
-
30
-
-
9644284455
-
Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region
-
O'Neill H.A., Gakh O., and Isaya G. Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region. J. Mol. Biol. 345 (2005) 433-439
-
(2005)
J. Mol. Biol.
, vol.345
, pp. 433-439
-
-
O'Neill, H.A.1
Gakh, O.2
Isaya, G.3
-
31
-
-
33646696625
-
Frataxin, iron-sulfur clusters, heme, ROS, and aging
-
Napoli E., Taroni F., and Cortopassi G.A. Frataxin, iron-sulfur clusters, heme, ROS, and aging. Antioxid Redox Signal 8 (2006) 506-516
-
(2006)
Antioxid Redox Signal
, vol.8
, pp. 506-516
-
-
Napoli, E.1
Taroni, F.2
Cortopassi, G.A.3
-
32
-
-
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. Yeast frataxin solution structure, iron binding, and ferrochelatase interaction. Biochemistry 43 (2004) 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
-
33
-
-
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. Solution structure of the bacterial frataxin ortholog, CyaY: mapping the iron binding sites. Structure 12 (2004) 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
-
34
-
-
9644279682
-
Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo
-
Aloria K., Schilke B., Andrew A., and Craig E.A. Iron-induced oligomerization of yeast frataxin homologue Yfh1 is dispensable in vivo. EMBO Rep. 5 (2004) 1096-1101
-
(2004)
EMBO Rep.
, vol.5
, pp. 1096-1101
-
-
Aloria, K.1
Schilke, B.2
Andrew, A.3
Craig, E.A.4
-
35
-
-
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. Monomeric yeast frataxin is an iron-binding protein. Biochemistry 45 (2006) 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
-
36
-
-
33644872938
-
Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus
-
Sazanov L.A., and Hinchliffe P. Structure of the hydrophilic domain of respiratory complex I from Thermus thermophilus. Science 311 (2006) 1430-1436
-
(2006)
Science
, vol.311
, pp. 1430-1436
-
-
Sazanov, L.A.1
Hinchliffe, P.2
-
37
-
-
0343717915
-
Frataxin activates mitochondrial energy conversion and oxidative phosphorylation
-
Ristow M., Pfister M.F., Yee A.J., Schubert M., Michael L., Zhang C.Y., Ueki K., Michael II M.D., Lowell B.B., and Kahn C.R. Frataxin activates mitochondrial energy conversion and oxidative phosphorylation. Proc. Natl. Acad. Sci. USA 97 (2000) 12239-12243
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 12239-12243
-
-
Ristow, M.1
Pfister, M.F.2
Yee, A.J.3
Schubert, M.4
Michael, L.5
Zhang, C.Y.6
Ueki, K.7
Michael II, M.D.8
Lowell, B.B.9
Kahn, C.R.10
-
38
-
-
26444566405
-
Frataxin interacts functionally with mitochondrial electron transport chain proteins
-
Gonzalez-Cabo P., Vazquez-Manrique R.P., Garcia-Gimeno M.A., Sanz P., and Palau F. Frataxin interacts functionally with mitochondrial electron transport chain proteins. Hum. Mol. Genet. 14 (2005) 2091-2098
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2091-2098
-
-
Gonzalez-Cabo, P.1
Vazquez-Manrique, R.P.2
Garcia-Gimeno, M.A.3
Sanz, P.4
Palau, F.5
-
39
-
-
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. Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant. Faseb J. 20 (2006) 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
-
40
-
-
34247643174
-
N-terminal iron-mediated self-cleavage of human frataxin: regulation of iron binding and complex formation with target proteins
-
Yoon T., Dizin E., and Cowan J.A. N-terminal iron-mediated self-cleavage of human frataxin: regulation of iron binding and complex formation with target proteins. J. Biol. Inorg. Chem. 12 (2007) 535-542
-
(2007)
J. Biol. Inorg. Chem.
, vol.12
, pp. 535-542
-
-
Yoon, T.1
Dizin, E.2
Cowan, J.A.3
-
41
-
-
0034731447
-
Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates
-
Cavadini P., Adamec J., Taroni F., Gakh O., and Isaya G. Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates. J. Biol. Chem. 275 (2000) 41469-41475
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 41469-41475
-
-
Cavadini, P.1
Adamec, J.2
Taroni, F.3
Gakh, O.4
Isaya, G.5
-
42
-
-
0036472291
-
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
-
Cavadini P., O'Neill H.A., Benada O., and Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum. Mol. Genet. 11 (2002) 217-227
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 217-227
-
-
Cavadini, P.1
O'Neill, H.A.2
Benada, O.3
Isaya, G.4
-
43
-
-
0034613233
-
Crystal structure of human frataxin
-
Dhe-Paganon S., Shigeta R., Chi Y.I., Ristow M., and Shoelson S.E. Crystal structure of human frataxin. J. Biol. Chem. 275 (2000) 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
-
45
-
-
33644844840
-
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
-
Odievre M.H., Chretien D., Munnich A., Robinson B.H., Dumoulin R., Masmoudi S., Kadhom N., Rotig A., Rustin P., and Bonnefont J.P. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum. Mutat. 25 (2005) 323-324
-
(2005)
Hum. Mutat.
, vol.25
, pp. 323-324
-
-
Odievre, M.H.1
Chretien, D.2
Munnich, A.3
Robinson, B.H.4
Dumoulin, R.5
Masmoudi, S.6
Kadhom, N.7
Rotig, A.8
Rustin, P.9
Bonnefont, J.P.10
-
46
-
-
0033584455
-
Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain
-
Shany E., Saada A., Landau D., Shaag A., Hershkovitz E., and Elpeleg O.N. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochem. Biophys. Res. Commun. 262 (1999) 163-166
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.262
, pp. 163-166
-
-
Shany, E.1
Saada, A.2
Landau, D.3
Shaag, A.4
Hershkovitz, E.5
Elpeleg, O.N.6
-
47
-
-
34447318623
-
In vivo maturation of human frataxin
-
Condo I., Ventura N., Malisan F., Rufini A., Tomassini B., and Testi R. In vivo maturation of human frataxin. Hum. Mol. Genet. (2007)
-
(2007)
Hum. Mol. Genet.
-
-
Condo, I.1
Ventura, N.2
Malisan, F.3
Rufini, A.4
Tomassini, B.5
Testi, R.6
-
48
-
-
0032695778
-
Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase
-
Gordon D.M., Shi Q., Dancis A., and Pain D. Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase. Hum. Mol. Genet. 8 (1999) 2255-2262
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2255-2262
-
-
Gordon, D.M.1
Shi, Q.2
Dancis, A.3
Pain, D.4
-
49
-
-
0031656903
-
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
-
Koutnikova H., Campuzano V., and Koenig M. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Hum. Mol. Genet. 7 (1998) 1485-1489
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1485-1489
-
-
Koutnikova, H.1
Campuzano, V.2
Koenig, M.3
-
50
-
-
33745222541
-
A pool of extramitochondrial frataxin that promotes cell survival
-
Condo I., Ventura N., Malisan F., Tomassini B., and Testi R. A pool of extramitochondrial frataxin that promotes cell survival. J. Biol. Chem. 281 (2006) 16750-16756
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 16750-16756
-
-
Condo, I.1
Ventura, N.2
Malisan, F.3
Tomassini, B.4
Testi, R.5
-
51
-
-
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. Yeast mitochondrial protein, Nfs1p, coordinately regulates iron-sulfur cluster proteins, cellular iron uptake, and iron distribution. J. Biol. Chem. 274 (1999) 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
-
52
-
-
17144378216
-
Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis
-
Rouault T.A., and Tong W.H. Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis. Nat. Rev. Mol. Cell Biol. 6 (2005) 345-351
-
(2005)
Nat. Rev. Mol. Cell Biol.
, vol.6
, pp. 345-351
-
-
Rouault, T.A.1
Tong, W.H.2
-
53
-
-
33644623262
-
Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis
-
Tong W.H., and Rouault T.A. Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis. Cell Metab. 3 (2006) 199-210
-
(2006)
Cell Metab.
, vol.3
, pp. 199-210
-
-
Tong, W.H.1
Rouault, T.A.2
-
54
-
-
34248653740
-
Metabolic regulation of citrate and iron by aconitases: role of iron-sulfur cluster biogenesis
-
Tong W.H., and Rouault T.A. Metabolic regulation of citrate and iron by aconitases: role of iron-sulfur cluster biogenesis. Biometals 20 (2007) 549-564
-
(2007)
Biometals
, vol.20
, pp. 549-564
-
-
Tong, W.H.1
Rouault, T.A.2
-
55
-
-
33845337036
-
Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia
-
Michael S., Petrocine S.V., Qian J., Lamarche J.B., Knutson M.D., Garrick M.D., and Koeppen A.H. Iron and iron-responsive proteins in the cardiomyopathy of Friedreich's ataxia. Cerebellum 5 (2006) 257-267
-
(2006)
Cerebellum
, vol.5
, pp. 257-267
-
-
Michael, S.1
Petrocine, S.V.2
Qian, J.3
Lamarche, J.B.4
Knutson, M.D.5
Garrick, M.D.6
Koeppen, A.H.7
-
56
-
-
33747330134
-
Mrs3p, Mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria
-
Zhang Y., Lyver E.R., Knight S.A., Pain D., Lesuisse E., and Dancis A. Mrs3p, Mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria. J. Biol. Chem. 281 (2006) 22493-22502
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 22493-22502
-
-
Zhang, Y.1
Lyver, E.R.2
Knight, S.A.3
Pain, D.4
Lesuisse, E.5
Dancis, A.6
-
57
-
-
33644816286
-
Chelatases: distort to select?
-
Al-Karadaghi S., Franco R., Hansson M., Shelnutt J.A., Isaya G., and Ferreira G.C. Chelatases: distort to select?. Trends Biochem. Sci. 31 (2006) 135-142
-
(2006)
Trends Biochem. Sci.
, vol.31
, pp. 135-142
-
-
Al-Karadaghi, S.1
Franco, R.2
Hansson, M.3
Shelnutt, J.A.4
Isaya, G.5
Ferreira, G.C.6
-
58
-
-
34147165135
-
RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload
-
Cavadini P., Biasiotto G., Poli M., Levi S., Verardi R., Zanella I., Derosas M., Ingrassia R., Corrado M., and Arosio P. RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload. Blood 109 (2007) 3552-3559
-
(2007)
Blood
, vol.109
, pp. 3552-3559
-
-
Cavadini, P.1
Biasiotto, G.2
Poli, M.3
Levi, S.4
Verardi, R.5
Zanella, I.6
Derosas, M.7
Ingrassia, R.8
Corrado, M.9
Arosio, P.10
-
59
-
-
34447316711
-
Mitochondrial frataxin interacts with ISD11 of the Nfs1/ISCU complex and multiple mitochondrial chaperones
-
Shan Y., Napoli E., and Cortopassi G. Mitochondrial frataxin interacts with ISD11 of the Nfs1/ISCU complex and multiple mitochondrial chaperones. Hum. Mol. Genet. 16 (2007) 929-941
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 929-941
-
-
Shan, Y.1
Napoli, E.2
Cortopassi, G.3
-
60
-
-
33845693952
-
Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts
-
Lu C., and Cortopassi G. Frataxin knockdown causes loss of cytoplasmic iron-sulfur cluster functions, redox alterations and induction of heme transcripts. Arch. Biochem. Biophys. 457 (2007) 111-122
-
(2007)
Arch. Biochem. Biophys.
, vol.457
, pp. 111-122
-
-
Lu, C.1
Cortopassi, G.2
-
61
-
-
18244408334
-
Frataxin knockin mouse
-
Miranda C.J., Santos M.M., Ohshima K., Smith J., Li L., Bunting M., Cossee M., Koenig M., Sequeiros J., Kaplan J., and Pandolfo M. Frataxin knockin mouse. FEBS Lett. 512 (2002) 291-297
-
(2002)
FEBS Lett.
, vol.512
, pp. 291-297
-
-
Miranda, C.J.1
Santos, M.M.2
Ohshima, K.3
Smith, J.4
Li, L.5
Bunting, M.6
Cossee, M.7
Koenig, M.8
Sequeiros, J.9
Kaplan, J.10
Pandolfo, M.11
-
62
-
-
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., and Geschwind D.H. Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiol. Dis. 22 (2006) 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
-
63
-
-
33744960105
-
Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia
-
Irazusta V., Cabiscol E., Reverter-Branchat G., Ros J., and Tamarit J. Manganese is the link between frataxin and iron-sulfur deficiency in the yeast model of Friedreich ataxia. J. Biol. Chem. 281 (2006) 12227-12232
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 12227-12232
-
-
Irazusta, V.1
Cabiscol, E.2
Reverter-Branchat, G.3
Ros, J.4
Tamarit, J.5
-
64
-
-
22144462536
-
Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans
-
Ventura N., Rea S., Henderson S.T., Condo I., Johnson T.E., and Testi R. Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans. Aging Cell 4 (2005) 109-112
-
(2005)
Aging Cell
, vol.4
, pp. 109-112
-
-
Ventura, N.1
Rea, S.2
Henderson, S.T.3
Condo, I.4
Johnson, T.E.5
Testi, R.6
-
65
-
-
33846794302
-
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
-
Llorens J.V., Navarro J.A., Martinez-Sebastian M.J., Baylies M.K., Schneuwly S., Botella J.A., and Molto M.D. Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. Faseb J. 21 (2007) 333-344
-
(2007)
Faseb J.
, vol.21
, pp. 333-344
-
-
Llorens, J.V.1
Navarro, J.A.2
Martinez-Sebastian, M.J.3
Baylies, M.K.4
Schneuwly, S.5
Botella, J.A.6
Molto, M.D.7
-
66
-
-
27944495710
-
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila
-
Anderson P.R., Kirby K., Hilliker A.J., and Phillips J.P. RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila. Hum. Mol. Genet. 14 (2005) 3397-3405
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3397-3405
-
-
Anderson, P.R.1
Kirby, K.2
Hilliker, A.J.3
Phillips, J.P.4
-
67
-
-
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. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 305 (2004) 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
-
68
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
Al-Mahdawi S., Pinto R.M., Ruddle P., Carroll C., Webster Z., and Pook M. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 84 (2004) 301-310
-
(2004)
Genomics
, vol.84
, pp. 301-310
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ruddle, P.3
Carroll, C.4
Webster, Z.5
Pook, M.6
-
69
-
-
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., and Pook M.A. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 88 (2006) 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
Pook, M.A.11
-
70
-
-
2342505155
-
Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice
-
Sarsero J.P., Li L., Holloway T.P., Voullaire L., Gazeas S., Fowler K.J., Kirby D.M., Thorburn D.R., Galle A., Cheema S., Koenig M., Williamson R., and Ioannou P.A. Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice. Mamm Genome 15 (2004) 370-382
-
(2004)
Mamm Genome
, vol.15
, pp. 370-382
-
-
Sarsero, J.P.1
Li, L.2
Holloway, T.P.3
Voullaire, L.4
Gazeas, S.5
Fowler, K.J.6
Kirby, D.M.7
Thorburn, D.R.8
Galle, A.9
Cheema, S.10
Koenig, M.11
Williamson, R.12
Ioannou, P.A.13
-
71
-
-
33748568551
-
Differentiation of a human neuroblastoma into neuron-like cells increases their susceptibility to transduction by herpesviral vectors
-
Gimenez-Cassina A., Lim F., and Diaz-Nido J. Differentiation of a human neuroblastoma into neuron-like cells increases their susceptibility to transduction by herpesviral vectors. J. Neurosci. Res. 84 (2006) 755-767
-
(2006)
J. Neurosci. Res.
, vol.84
, pp. 755-767
-
-
Gimenez-Cassina, A.1
Lim, F.2
Diaz-Nido, J.3
-
72
-
-
23944490153
-
The oral antidiabetic pioglitazone protects from neurodegeneration and amyotrophic lateral sclerosis-like symptoms in superoxide dismutase-G93A transgenic mice
-
Schutz B., Reimann J., Dumitrescu-Ozimek L., Kappes-Horn K., Landreth G.E., Schurmann B., Zimmer A., and Heneka M.T. The oral antidiabetic pioglitazone protects from neurodegeneration and amyotrophic lateral sclerosis-like symptoms in superoxide dismutase-G93A transgenic mice. J. Neurosci. 25 (2005) 7805-7812
-
(2005)
J. Neurosci.
, vol.25
, pp. 7805-7812
-
-
Schutz, B.1
Reimann, J.2
Dumitrescu-Ozimek, L.3
Kappes-Horn, K.4
Landreth, G.E.5
Schurmann, B.6
Zimmer, A.7
Heneka, M.T.8
-
73
-
-
0038448961
-
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia
-
Sarsero J.P., Li L., Wardan H., Sitte K., Williamson R., and Ioannou P.A. Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. J. Gene Med. 5 (2003) 72-81
-
(2003)
J. Gene Med.
, vol.5
, pp. 72-81
-
-
Sarsero, J.P.1
Li, L.2
Wardan, H.3
Sitte, K.4
Williamson, R.5
Ioannou, P.A.6
-
74
-
-
22144448571
-
Competition dialysis: an assay to measure the structural selectivity of drug-nucleic acid interactions
-
Chaires J.B. Competition dialysis: an assay to measure the structural selectivity of drug-nucleic acid interactions. Curr. Med. Chem. Anticancer Agents 5 (2005) 339-352
-
(2005)
Curr. Med. Chem. Anticancer Agents
, vol.5
, pp. 339-352
-
-
Chaires, J.B.1
-
75
-
-
33748796912
-
Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia
-
Grant L., Sun J., Xu H., Subramony S.H., Chaires J.B., and Hebert M.D. Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia. FEBS Lett. 580 (2006) 5399-5405
-
(2006)
FEBS Lett.
, vol.580
, pp. 5399-5405
-
-
Grant, L.1
Sun, J.2
Xu, H.3
Subramony, S.H.4
Chaires, J.B.5
Hebert, M.D.6
-
76
-
-
27844526573
-
Recombinant human erythropoietin: effects on frataxin expression in vitro
-
Sturm B., Stupphann D., Kaun C., Boesch S., Schranzhofer M., Wojta J., Goldenberg H., and Scheiber-Mojdehkar B. Recombinant human erythropoietin: effects on frataxin expression in vitro. Eur. J. Clin. Invest. 35 (2005) 711-717
-
(2005)
Eur. J. Clin. Invest.
, vol.35
, pp. 711-717
-
-
Sturm, B.1
Stupphann, D.2
Kaun, C.3
Boesch, S.4
Schranzhofer, M.5
Wojta, J.6
Goldenberg, H.7
Scheiber-Mojdehkar, B.8
-
77
-
-
0035138072
-
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., and 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 (2001) 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
-
78
-
-
33750716051
-
Iron: a new target for pharmacological intervention in neurodegenerative diseases
-
Whitnall M., and Richardson D.R. Iron: a new target for pharmacological intervention in neurodegenerative diseases. Semin. Pediatr. Neurol. 13 (2006) 186-197
-
(2006)
Semin. Pediatr. Neurol.
, vol.13
, pp. 186-197
-
-
Whitnall, M.1
Richardson, D.R.2
-
79
-
-
34347370842
-
Selective iron chelation in Friedreich ataxia. Biological and clinical implications
-
Boddaert N., Le Quan Sang K.H., Rotig A., Leroy-Willig A., Gallet S., Brunelle F., Sidi D., Thalabard J.C., Munnich A., and Cabantchik Z.I. Selective iron chelation in Friedreich ataxia. Biological and clinical implications. Blood (2007)
-
(2007)
Blood
-
-
Boddaert, N.1
Le Quan Sang, K.H.2
Rotig, A.3
Leroy-Willig, A.4
Gallet, S.5
Brunelle, F.6
Sidi, D.7
Thalabard, J.C.8
Munnich, A.9
Cabantchik, Z.I.10
-
80
-
-
15444372353
-
Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches
-
Angdisen J., Moore V.D., Cline J.M., Payne R.M., and Ibdah J.A. Mitochondrial trifunctional protein defects: molecular basis and novel therapeutic approaches. Curr. Drug Targets Immune Endocr. Metabol. Disord. 5 (2005) 27-40
-
(2005)
Curr. Drug Targets Immune Endocr. Metabol. Disord.
, vol.5
, pp. 27-40
-
-
Angdisen, J.1
Moore, V.D.2
Cline, J.M.3
Payne, R.M.4
Ibdah, J.A.5
-
81
-
-
0038730828
-
A novel TAT-mitochondrial signal sequence fusion protein is processed, stays in mitochondria, and crosses the placenta
-
Del Gaizo V., and Payne R.M. A novel TAT-mitochondrial signal sequence fusion protein is processed, stays in mitochondria, and crosses the placenta. Mol. Ther. 7 (2003) 720-730
-
(2003)
Mol. Ther.
, vol.7
, pp. 720-730
-
-
Del Gaizo, V.1
Payne, R.M.2
|