-
1
-
-
0032710401
-
Friedreich's ataxia: Clinical aspects and pathogenesis
-
Pandolfo M (1999) Friedreich's ataxia: clinical aspects and pathogenesis. Semin Neurol 19, 311 321.
-
(1999)
Semin Neurol
, vol.19
, pp. 311-321
-
-
Pandolfo, M.1
-
2
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423 1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
3
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6, 1771 1780.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
Trottier, Y.7
Kish, S.J.8
Faucheux, B.9
Trouillas, P.10
-
4
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O Koenig M (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 16, 345 351.
-
(1997)
Nat Genet
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
5
-
-
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 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
-
6
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
Foury F Cazzalini O (1997) Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 411, 373 377.
-
(1997)
FEBS Lett
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
7
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rötig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A 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
-
-
Rötig, A.1
De Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
8
-
-
0037613459
-
Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins
-
Yoon T Cowan JA (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
-
9
-
-
0033838364
-
Iron-dependent self-assembly of recombinant yeast frataxin: Implications for Friedreich ataxia
-
Adamec J, Rusnak F, Owen WG, Naylor S, Benson LM, Gacy AM 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
-
10
-
-
64049116040
-
Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS
-
Adinolfi S, Iannuzzi C, Prischi F, Pastore C, Iametti S, Martin SR, Bonomi F Pastore A (2009) Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS. Nat Struct Mol Biol 16, 390 396.
-
(2009)
Nat Struct Mol Biol
, vol.16
, pp. 390-396
-
-
Adinolfi, S.1
Iannuzzi, C.2
Prischi, F.3
Pastore, C.4
Iametti, S.5
Martin, S.R.6
Bonomi, F.7
Pastore, A.8
-
11
-
-
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 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
-
12
-
-
12944257432
-
Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family
-
Cho SJ, Lee MG, Yang JK, Lee JY, Song HK Suh SW (2000) Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family. Proc Natl Acad Sci USA 97, 8932 8937.
-
(2000)
Proc Natl Acad Sci USA
, 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
-
13
-
-
0034613233
-
Crystal structure of human frataxin
-
Dhe-Paganon S, Shigeta R, Chi YI, Ristow M Shoelson SE (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
-
14
-
-
11144265730
-
Yeast frataxin solution structure, iron binding, and ferrochelatase interaction
-
He Y, Alam SL, Proteasa SV, Zhang Y, Lesuisse E, Dancis A Stemmler TL (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
-
15
-
-
33749265843
-
The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron
-
Karlberg T, Schagerlöf U, Gakh O, Park S, Ryde U, Lindahl M, Leath K, Garman E, Isaya G Al-Karadaghi S (2006) The structures of frataxin oligomers reveal the mechanism for the delivery and detoxification of iron. Structure 14, 1535 1546.
-
(2006)
Structure
, vol.14
, pp. 1535-1546
-
-
Karlberg, T.1
Schagerlöf, 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
-
16
-
-
34247643174
-
N-terminal iron-mediated self-cleavage of human frataxin: Regulation of iron binding and complex formation with target proteins
-
Yoon T, Dizin E Cowan JA (2007) N-terminal iron-mediated self-cleavage of human frataxin: regulation of iron binding and complex formation with target proteins. J Biol Inorg Chem 12, 535 542.
-
(2007)
J Biol Inorg Chem
, vol.12
, pp. 535-542
-
-
Yoon, T.1
Dizin, E.2
Cowan, J.A.3
-
17
-
-
34447318623
-
In vivo maturation of human frataxin
-
Condo I, Ventura N, Malisan F, Rufini A, Tomassini B Testi R (2007) In vivo maturation of human frataxin. Hum Mol Genet 16, 1534 1540.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1534-1540
-
-
Condo, I.1
Ventura, N.2
Malisan, F.3
Rufini, A.4
Tomassini, B.5
Testi, R.6
-
18
-
-
54949116234
-
The in vivo mitochondrial two-step maturation of human frataxin
-
Schmucker S, Argentini M, Carelle-Calmels N, Martelli A Puccio H (2008) The in vivo mitochondrial two-step maturation of human frataxin. Hum Mol Genet 17, 3521 3531.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3521-3531
-
-
Schmucker, S.1
Argentini, M.2
Carelle-Calmels, N.3
Martelli, A.4
Puccio, H.5
-
19
-
-
0025183708
-
Basic local alignment search tool
-
Altschul SF, Gish W, Miller W, Myers EW Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215, 403 410.
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
20
-
-
36448991500
-
Clustal W and Clustal X version 2.0
-
Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, Valentin F, Wallace IM, Wilm A, Lopez R et al. (2007) Clustal W and Clustal X version 2.0. Bioinformatics 23, 2947 2948.
-
(2007)
Bioinformatics
, vol.23
, pp. 2947-2948
-
-
Larkin, M.A.1
Blackshields, G.2
Brown, N.P.3
Chenna, R.4
McGettigan, P.A.5
McWilliam, H.6
Valentin, F.7
Wallace, I.M.8
Wilm, A.9
Lopez, R.10
-
21
-
-
0242458482
-
Protein disorder prediction: Implications for structural proteomics
-
Linding R, Jensen LJ, Diella F, Bork P, Gibson TJ Russell RB (2003) Protein disorder prediction: implications for structural proteomics. Structure 11, 1453 1459.
-
(2003)
Structure
, vol.11
, pp. 1453-1459
-
-
Linding, R.1
Jensen, L.J.2
Diella, F.3
Bork, P.4
Gibson, T.J.5
Russell, R.B.6
-
22
-
-
0001913048
-
Predicting protein disorder for N-, C-, and internal regions
-
Li X, Romero P, Rani M, Dunker AK Obradovic Z (1999) Predicting protein disorder for N-, C-, and internal regions. Genome Inform Ser Workshop Genome Inform 10, 30 40.
-
(1999)
Genome Inform ser Workshop Genome Inform
, vol.10
, pp. 30-40
-
-
Li, X.1
Romero, P.2
Rani, M.3
Dunker, A.K.4
Obradovic, Z.5
-
24
-
-
27544456339
-
A simple method to predict protein flexibility using secondary chemical shifts
-
Berjanskii MV Wishart DS (2005) A simple method to predict protein flexibility using secondary chemical shifts. J Am Chem Soc 127, 14970 14971.
-
(2005)
J Am Chem Soc
, vol.127
, pp. 14970-14971
-
-
Berjanskii, M.V.1
Wishart, D.S.2
-
25
-
-
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
Detommasi, T.2
Kolmerer, B.3
Stier, G.4
Bottomley, M.5
Adinolfi, S.6
Muskett, F.7
Gibson, T.8
Frenkiel, T.9
Pastore, A.10
-
26
-
-
7944225865
-
Solution structure of the bacterial frataxin ortholog, CyaY: Mapping the iron binding sites
-
Nair M, Adinolfi S, Pastore C, Kelly G, Temussi P 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
-
27
-
-
0036472291
-
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
-
Cavadini P, O'Neill HA, Benada O Isaya G (2002) Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum Mol Genet 11, 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
-
28
-
-
0036667986
-
A structural approach to understanding the iron-binding properties of phylogenetically different frataxins
-
Adinolfi S, Trifuoggi M, Politou AS, Martin S Pastore A (2002) A structural approach to understanding the iron-binding properties of phylogenetically different frataxins. Hum Mol Genet 11, 1865 1877.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1865-1877
-
-
Adinolfi, S.1
Trifuoggi, M.2
Politou, A.S.3
Martin, S.4
Pastore, A.5
-
29
-
-
3342981572
-
Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli
-
Bou-Abdallah F, Adinolfi S, Pastore A, Laue TM Dennis Chasteen N (2004) Iron binding and oxidation kinetics in frataxin CyaY of Escherichia coli. J Mol Biol 341, 605 615.
-
(2004)
J Mol Biol
, vol.341
, pp. 605-615
-
-
Bou-Abdallah, F.1
Adinolfi, S.2
Pastore, A.3
Laue, T.M.4
Dennis Chasteen, N.5
-
30
-
-
13844255387
-
Natively unfolded proteins
-
Fink AL (2005) Natively unfolded proteins. Curr Opin Struct Biol 15, 35 41.
-
(2005)
Curr Opin Struct Biol
, vol.15
, pp. 35-41
-
-
Fink, A.L.1
-
31
-
-
42449093713
-
Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer
-
Schagerlof U, Elmlund H, Gakh O, Nordlund G, Hebert H, Lindahl M, Isaya G Al-Karadaghi S (2008) Structural basis of the iron storage function of frataxin from single-particle reconstruction of the iron-loaded oligomer. Biochemistry 47, 4948 4954.
-
(2008)
Biochemistry
, vol.47
, pp. 4948-4954
-
-
Schagerlof, U.1
Elmlund, H.2
Gakh, O.3
Nordlund, G.4
Hebert, H.5
Lindahl, M.6
Isaya, G.7
Al-Karadaghi, S.8
-
32
-
-
9644284455
-
Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region
-
O'Neill HA, Gakh O Isaya G (2005) Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region. J Mol Biol 345, 433 439.
-
(2005)
J Mol Biol
, vol.345
, pp. 433-439
-
-
O'Neill, H.A.1
Gakh, O.2
Isaya, G.3
-
33
-
-
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 Isaya G (2000) Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates. J Biol Chem 275, 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
-
34
-
-
0029400480
-
NMRPipe: A multidimensional spectral processing system based on UNIX pipes
-
Delaglio F, Grzesiek S, Vuister GW, Zhu G, Pfeifer J Bax A (1995) NMRPipe: a multidimensional spectral processing system based on UNIX pipes. J Biomol NMR 6, 277 293.
-
(1995)
J Biomol NMR
, vol.6
, pp. 277-293
-
-
Delaglio, F.1
Grzesiek, S.2
Vuister, G.W.3
Zhu, G.4
Pfeifer, J.5
Bax, A.6
|