-
1
-
-
0010410867
-
Über degenerative atrophie der spinalen hinterstránge
-
Friedreich N. Über degenerative Atrophie der spinalen Hinterstránge. Virchows Arch Pathol Anat 1863;27:1-26.
-
(1863)
Virchows Arch Pathol Anat
, vol.27
, pp. 1-26
-
-
Friedreich, N.1
-
2
-
-
34447609375
-
Über degenerative Atrophie der spinalen Hinterstränge
-
Friedreich N. Über degenerative Atrophie der spinalen Hinterstränge. Virchows Arch Pathol Anat 1863;26(433-459).
-
(1863)
Virchows Arch Pathol Anat
, vol.26
, pp. 433-459
-
-
Friedreich, N.1
-
3
-
-
0028816185
-
Friedreich's ataxia: An epidemiological study in Valencia, Spain, based on consanguinity analysis
-
Lopez-Arlandis JM, Vilchez JJ, Palau F, et al. Friedreich's ataxia: an epidemiological study in Valencia, Spain, based on consanguinity analysis. Neuroepidemiology 1995;14(1):14-19.
-
(1995)
Neuroepidemiology
, vol.14
, Issue.1
, pp. 14-19
-
-
Lopez-Arlandis, J.M.1
Vilchez, J.J.2
Palau, F.3
-
4
-
-
0025876335
-
Hereditary ataxias and paraplegias in Cantabria Spain. An epidemiological and clinical study
-
Polo JM, Calleja J, Combarros O, et al. Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study. Brain 1991; 114 ( Pt 2):855-866.
-
(1991)
Brain
, vol.114
, Issue.PART 2
, pp. 855-866
-
-
Polo, J.M.1
Calleja, J.2
Combarros, O.3
-
5
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
DOI 10.1056/NEJM199610173351601
-
Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335 (16):1169-1175. (Pubitemid 26339770)
-
(1996)
New England Journal of Medicine
, vol.335
, Issue.16
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
Campuzano, V.4
Mignard, C.5
Penet, C.6
Mandel, J.-L.7
Brice, A.8
Koenig, M.9
-
6
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271 (5254):1423-1427. (Pubitemid 26089479)
-
(1996)
Science
, vol.271
, Issue.5254
, 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..
-
7
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S, Shaw J, Rowland A, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988;334(6179):248-250.
-
(1988)
Nature
, vol.334
, Issue.6179
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
-
8
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
-
Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 1997;94(14):7452-7457.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, Issue.14
, pp. 7452-7457
-
-
Cossee, M.1
Schmitt, M.2
Campuzano, V.3
-
9
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
-
DOI 10.1093/hmg/6.8.1261
-
Montermini L, Andermann E, Labuda M, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997;6(8):1261-1266. (Pubitemid 27351065)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.8
, pp. 1261-1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
Richter, A.4
Pandolfo, M.5
Cavalcanti, F.6
Pianese, L.7
Iodice, L.8
Farina, G.9
Monticelli, A.10
Turano, M.11
Filla, A.12
De Michele, G.13
Cocozza, S.14
-
10
-
-
0030895266
-
Atypical friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion [6]
-
Bidichandani SI, Ashizawa T, Patel PI. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 1997;60(5):1251-1256. (Pubitemid 27194113)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.5
, pp. 1251-1256
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
11
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
DOI 10.1093/hmg/6.11.1771
-
Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6(11):1771-1780. (Pubitemid 27460350)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, 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
Authier, F.J.11
Durr, A.12
Mandel, J.-L.13
Vescovi, A.14
Pandolfo, M.15
Koenig, M.16
-
12
-
-
34548775695
-
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
-
DOI 10.1093/nar/gkm589
-
Grabczyk E, Mancuso M, Sammarco MC. A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucleic Acids Res 2007;35(16):5351-5359. (Pubitemid 47423909)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.16
, pp. 5351-5359
-
-
Grabczyk, E.1
Mancuso, M.2
Sammarco, M.C.3
-
13
-
-
0034660695
-
The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk E, Usdin K. The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 2000;28(14):2815-2822. (Pubitemid 30488540)
-
(2000)
Nucleic Acids Research
, vol.28
, Issue.14
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
14
-
-
56049103058
-
*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
-
*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res 2008;36(19):6056-6065.
-
(2008)
Nucleic Acids Res
, vol.36
, Issue.19
, pp. 6056-6065
-
-
Soragni, E.1
Herman, D.2
Dent, S.Y.3
-
15
-
-
0034218489
-
A novel missense mutation (L198R) in the Friedreich's ataxia gene
-
Al-Mahdawi S, Pook M, Chamberlain S. A novel missense mutation (L198R) in the Friedreich's ataxia gene. Hum Mutat 2000;16(1):95.
-
(2000)
Hum Mutat
, vol.16
, Issue.1
, pp. 95
-
-
Al-Mahdawi, S.1
Pook, M.2
Chamberlain, S.3
-
16
-
-
0032511744
-
Identification of a missense mutation in a Friedreich's ataxia patient: Implications for diagnosis and carrier studies
-
DOI 10.1002/(SICI)1096-8628(19981012)79:5<396::AID-AJMG13>3.0.CO;2- M
-
Bartolo C, Mendell JR, Prior TW. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. Am J Med Genet 1998;79(5):396-399. (Pubitemid 28445453)
-
(1998)
American Journal of Medical Genetics
, vol.79
, Issue.5
, pp. 396-399
-
-
Bartolo, C.1
Mendell, J.R.2
Prior, T.W.3
-
17
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
-
DOI 10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U
-
Cossee M, Durr A, Schmitt M, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 1999;45(2):200-206. (Pubitemid 29072366)
-
(1999)
Annals of Neurology
, vol.45
, Issue.2
, pp. 200-206
-
-
Cossee, M.1
Durr, A.2
Schmitt, M.3
Dahl, N.4
Trouillas, P.5
Allinson, P.6
Kostrzewa, M.7
Nivelon-Chevallier, A.8
Gustavson, K.-H.9
Kohlschutter, A.10
Muller, U.11
Mandel, J.-L.12
Brice, A.13
Koenig, M.14
Cavalcanti, F.15
Tammaro, A.16
De Michele, G.17
Filla, A.18
Cocozza, S.19
Labuda, M.20
Montermini, L.21
Poirier, J.22
Pandolfo, M.23
more..
-
18
-
-
0343340403
-
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
-
De Castro M, Garcia-Planells J, Monros E, et al. Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients. Hum Genet 2000;106(1):86-92. (Pubitemid 30156399)
-
(2000)
Human Genetics
, vol.106
, Issue.1
, pp. 86-92
-
-
De Castro, M.1
Garcia-Planells, J.2
Monros, E.3
Canizares, J.4
Vazquez-Manrique, R.5
Vilchez, J.J.6
Urtasun, M.7
Lucas, M.8
Navarro, G.9
Izquierdo, G.10
Molto, M.D.11
Palau, F.12
-
19
-
-
17344377955
-
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene
-
De Michele G, Filla A, Cavalcanti F, et al. Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene. Neurology 2000;54(2):496-499. (Pubitemid 30078093)
-
(2000)
Neurology
, vol.54
, Issue.2
, pp. 496-499
-
-
De Michele, G.1
Filla, A.2
Cavalcanti, F.3
Tammaro, A.4
Monticelli, A.5
Pianese, L.6
Di Salle, F.7
Perretti, A.8
Santoro, L.9
Caruso, G.10
Cocozza, S.11
-
20
-
-
0141522350
-
A novel site mutation (384+1G-A) in the Friedreich's ataxia gene
-
Doudney K PM, Al-Mahdawi S, Carvajal J, Hillerman R, Chamberlain S. A novel site mutation (384+1G-A) in the Friedreich's ataxia gene. Hum Mutat 1997;11:415.
-
(1997)
Hum Mutat
, vol.11
, pp. 415
-
-
Doudney, K.P.M.1
Al-Mahdawi, S.2
Carvajal, J.3
Hillerman, R.4
Chamberlain, S.5
-
21
-
-
0032129416
-
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
-
Forrest SM, Knight M, Delatycki MB, et al. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics 1998;1(4):253-257. (Pubitemid 128685081)
-
(1998)
Neurogenetics
, vol.1
, Issue.4
, pp. 253-257
-
-
Forrest, S.M.1
Knight, M.2
Delatycki, M.B.3
Paris, D.4
Williamson, R.5
King, J.6
Yeung, L.7
Nassif, N.8
Nicholson, G.A.9
-
22
-
-
0005622907
-
A missense mutation (W155R) in an American patients with Friedreich ataxia
-
Labuda M P,Ja, PM. A missense mutation (W155R) in an American patients with Friedreich ataxia. Hum Mutat 1999;13:506-507.
-
(1999)
Hum Mutat
, vol.13
, pp. 506-507
-
-
Labuda, M.P.1
Ja, P.M.2
-
23
-
-
0034066598
-
Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features
-
DOI 10.1136/jnnp.68.5.661
-
McCormack ML, Guttmann RP, Schumann M, et al. Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features. J Neurol Neurosurg Psychiatry 2000;68(5):661-664. (Pubitemid 30248838)
-
(2000)
Journal of Neurology Neurosurgery and Psychiatry
, vol.68
, Issue.5
, pp. 661-664
-
-
McCormack, M.L.1
Guttmann, R.P.2
Schumann, M.3
Farmer, J.M.4
Stolle, C.A.5
Campuzano, V.6
Koenig, M.7
Lynch, D.R.8
-
24
-
-
0034321995
-
Identification of three novel frameshift mutations in patients with Friedreich's ataxia
-
Pook MA, Al-Mahdawi SA, Thomas NH, et al. Identification of three novel frameshift mutations in patients with Friedreich's ataxia. J Med Genet 2000;37(11):E38.
-
(2000)
J Med Genet
, vol.37
, Issue.11
-
-
Pook, M.A.1
Al-Mahdawi, S.A.2
Thomas, N.H.3
-
25
-
-
0036589837
-
Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion
-
DOI 10.1002/mds.10175
-
Zhu D, Burke C, Leslie A, et al. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Mov Disord 2002;17(3):585-589. (Pubitemid 36040975)
-
(2002)
Movement Disorders
, vol.17
, Issue.3
, pp. 585-589
-
-
Zhu, D.1
Burke, C.2
Leslie, A.3
Nicholson, G.A.4
-
26
-
-
0031683863
-
Mutation of the start codon in the FRDA1 gene: Linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
-
DOI 10.1007/s004390050791
-
Zuhlke C, Laccone F, Cossee M, et al. Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor. Hum Genet 1998;103(1):102-105. (Pubitemid 28398394)
-
(1998)
Human Genetics
, vol.103
, Issue.1
, pp. 102-105
-
-
Zuhlke, C.1
Laccone, F.2
Cossee, M.3
Kohlschutter, A.4
Koenig, M.5
Schwinger, E.6
-
27
-
-
0033529554
-
Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase
-
Branda SS, Cavadini P, Adamec J, et al. Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase. J Biol Chem 1999;274(32):22763-22769.
-
(1999)
J Biol Chem
, vol.274
, Issue.32
, pp. 22763-22769
-
-
Branda, S.S.1
Cavadini, P.2
Adamec, J.3
-
28
-
-
0031656903
-
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
-
DOI 10.1093/hmg/7.9.1485
-
Koutnikova H, Campuzano V, Koenig M. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Hum Mol Genet 1998;7(9):1485-1489. (Pubitemid 28429930)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.9
, pp. 1485-1489
-
-
Koutnikova, H.1
Campuzano, V.2
Koenig, M.3
-
29
-
-
54949116234
-
The in vivo mitochondrial two-step maturation of human frataxin
-
Schmucker S, Argentini M, Carelle-Calmels N, et al. The in vivo mitochondrial two-step maturation of human frataxin. Hum Mol Genet 2008;17(22):3521-35231.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.22
, pp. 3521-35231
-
-
Schmucker, S.1
Argentini, M.2
Carelle-Calmels, N.3
-
30
-
-
0034613233
-
Crystal structure of human frataxin
-
Dhe-Paganon S, Shigeta R, Chi YI, et al. Crystal structure of human frataxin. J Biol Chem 2000;275(40):30753-30756.
-
(2000)
J Biol Chem
, vol.275
, Issue.40
, pp. 30753-30756
-
-
Dhe-Paganon, S.1
Shigeta, R.2
Chi, Y.I.3
-
31
-
-
0030296878
-
Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction
-
DOI 10.1016/S0166-2236(96)20054-2, PII S0166223696200542
-
Gibson TJ, Koonin EV, Musco G, et al. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci 1996;19(11):465-468. (Pubitemid 26359860)
-
(1996)
Trends in Neurosciences
, vol.19
, Issue.11
, pp. 465-468
-
-
Gibson, T.J.1
Koonin, E.V.2
Musco, G.3
Pastore, A.4
Bork, P.5
-
32
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
DOI 10.1126/science.276.5319.1709
-
Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276(5319):1709-1712. (Pubitemid 27421980)
-
(1997)
Science
, vol.276
, Issue.5319
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
Davis-Kaplan, S.4
Jiralerspong, S.5
Montermini, L.6
Pandolfo, M.7
Kaplan, J.8
-
33
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
DOI 10.1016/S0014-5793(97)00734-5, PII S0014579397007345
-
Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997;411(2- 3):373-377. (Pubitemid 27301488)
-
(1997)
FEBS Letters
, vol.411
, Issue.2-3
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
34
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
DOI 10.1038/ng0897-345
-
Koutnikova H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997;16(4):345-351. (Pubitemid 27323298)
-
(1997)
Nature Genetics
, vol.16
, Issue.4
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
35
-
-
0033582421
-
The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle
-
Radisky DC, Babcock MC, Kaplan J. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J Biol Chem 1999;274(8): 4497-4499.
-
(1999)
J Biol Chem
, vol.274
, Issue.8
, pp. 4497-4499
-
-
Radisky, D.C.1
Babcock, M.C.2
Kaplan, J.3
-
36
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial dna in yeast lacking the frataxin homologue
-
DOI 10.1038/ng0897-352
-
Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997;16(4):352-357. (Pubitemid 27323299)
-
(1997)
Nature Genetics
, vol.16
, Issue.4
, pp. 352-357
-
-
Wilson, R.B.1
Roof, D.M.2
-
37
-
-
0034641851
-
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae
-
Cavadini P, Gellera C, Patel PI, et al. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum Mol Genet 2000;9(17):2523-2530.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.17
, pp. 2523-2530
-
-
Cavadini, P.1
Gellera, C.2
Patel, P.I.3
-
38
-
-
0034601719
-
Dfh is a Drosophila homolog of the Friedreich's ataxia disease gene
-
Canizares J, Blanca JM, Navarro JA, et al. dfh is a Drosophila homolog of the Friedreich's ataxia disease gene. Gene 2000;256(1-2):35-42.
-
(2000)
Gene
, vol.256
, Issue.1-2
, pp. 35-42
-
-
Canizares, J.1
Blanca, J.M.2
Navarro, J.A.3
-
39
-
-
33846794302
-
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
-
DOI 10.1096/fj.05-5709com
-
Llorens JV, Navarro JA, Martinez-Sebastian MJ, et al. Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. Faseb J 2007;21(2):333-344. (Pubitemid 46213481)
-
(2007)
FASEB Journal
, vol.21
, Issue.2
, 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
-
40
-
-
27944495710
-
RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila
-
DOI 10.1093/hmg/ddi367
-
Anderson PR, Kirby K, Hilliker AJ, et al. RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila. Hum Mol Genet 2005;14(22):3397-3405. (Pubitemid 41672124)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.22
, pp. 3397-3405
-
-
Anderson, P.R.1
Kirby, K.2
Hilliker, A.J.3
Phillips, J.P.4
-
41
-
-
0034192352
-
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
-
Cossee M, Puccio H, Gansmuller A, et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet 2000;9(8):1219-1226. (Pubitemid 30248608)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.8
, pp. 1219-1226
-
-
Cossee, M.1
Puccio, H.2
Gansmuller, A.3
Koutnikova, H.4
Dierich, A.5
LeMeur, M.6
Fischbeck, K.7
Dolle, P.8
Koenig, M.9
-
42
-
-
0035890871
-
Selectivity of protein oxidative damage during aging in Drosophila melanogaster
-
DOI 10.1042/0264-6021:3600209
-
Das N, Levine RL, Orr WC, et al. Selectivity of protein oxidative damage during aging in Drosophila melanogaster. Biochem J 2001;360(Pt 1):209-216. (Pubitemid 33081966)
-
(2001)
Biochemical Journal
, vol.360
, Issue.1
, pp. 209-216
-
-
Das, N.1
Levine, R.L.2
Orr, W.C.3
Sohal, R.S.4
-
43
-
-
0027675379
-
Ascorbate-dependent formation of hydroxyl radicals in the presence of iron chelates
-
Prabhu HR, Krishnamurthy S. Ascorbate-dependent formation of hydroxyl radicals in the presence of iron chelates. Indian J Biochem Biophys 1993;30(5):289-292.
-
(1993)
Indian J Biochem Biophys
, vol.30
, Issue.5
, pp. 289-292
-
-
Prabhu, H.R.1
Krishnamurthy, S.2
-
44
-
-
38649103446
-
Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia
-
DOI 10.1073/pnas.0709691105
-
Anderson PR, Kirby K, Orr WC, et al. Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia. Proc Natl Acad Sci U S A 2008;105(2):611-616. (Pubitemid 351171756)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.2
, pp. 611-616
-
-
Anderson, P.R.1
Kirby, K.2
Orr, W.C.3
Hilliker, A.J.4
Phillips, J.P.5
-
45
-
-
39749191225
-
Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila
-
Runko AP, Griswold AJ, Min KT. Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila. FEBS Lett 2008;582(5):715-719.
-
(2008)
FEBS Lett
, vol.582
, Issue.5
, pp. 715-719
-
-
Runko, A.P.1
Griswold, A.J.2
Min, K.T.3
-
46
-
-
0033838364
-
Iron-dependent self-assembly of recombinant yeast frataxin: Implications for Friedreich ataxia
-
DOI 10.1086/303056
-
Adamec J, Rusnak F, Owen WG, et al. Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia. Am J Hum Genet 2000;67(3):549-562. (Pubitemid 30659586)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.3
, 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
-
47
-
-
22144462536
-
Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans
-
DOI 10.1111/j.1474-9726.2005.00149.x
-
Ventura N, Rea S, Henderson ST, et al. Reduced expression of frataxin extends the lifespan of Caenorhabditis elegans. Aging Cell 2005;4(2):109-112. (Pubitemid 41632910)
-
(2005)
Aging Cell
, vol.4
, Issue.2
, pp. 109-112
-
-
Ventura, N.1
Rea, S.2
Henderson, S.T.3
Condo, I.4
Johnson, T.E.5
Testi, R.6
-
48
-
-
30744458144
-
Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant
-
DOI 10.1096/fj.05-4212fje
-
Vazquez-Manrique RP, Gonzalez-Cabo P, Ros S, et al. Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant. Faseb J 2006;20(1):172-174. (Pubitemid 43100504)
-
(2006)
FASEB Journal
, vol.20
, Issue.1
, 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
-
49
-
-
33947622592
-
Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia
-
DOI 10.1096/fj.06-6994com
-
Zarse K, Schulz TJ, Birringer M, et al. Impaired respiration is positively correlated with decreased life span in Caenorhabditis elegans models of Friedreich Ataxia. Faseb J 2007;21(4):1271-1275. (Pubitemid 46495716)
-
(2007)
FASEB Journal
, vol.21
, Issue.4
, pp. 1271-1275
-
-
Zarse, K.1
Schulz, T.J.2
Birringer, M.3
Ristow, M.4
-
50
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
DOI 10.1038/84818
-
Puccio H, Simon D, Cossee M, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 2001;27(2):181-186. (Pubitemid 32157445)
-
(2001)
Nature Genetics
, vol.27
, Issue.2
, 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
-
51
-
-
1442324707
-
Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia
-
DOI 10.1523/JNEUROSCI.4549-03.2004
-
Simon D, Seznec H, Gansmuller A, et al. Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci 2004;24(8):1987-1995. (Pubitemid 38292812)
-
(2004)
Journal of Neuroscience
, vol.24
, Issue.8
, pp. 1987-1995
-
-
Simon, D.1
Seznec, H.2
Gansmuller, A.3
Carelle, N.4
Weber, P.5
Metzger, D.6
Rustin, P.7
Koenig, M.8
Puccio, H.9
-
52
-
-
18244408334
-
Frataxin knockin mouse
-
DOI 10.1016/S0014-5793(02)02251-2, PII S0014579302022512
-
Miranda CJ, Santos MM, Ohshima K, et al. Frataxin knockin mouse. FEBS Lett 2002;512(1- 3):291-297. (Pubitemid 34164497)
-
(2002)
FEBS Letters
, vol.512
, Issue.1-3
, 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
-
53
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
DOI 10.1016/j.ygeno.2004.04.003, PII S0888754304000904
-
Al-Mahdawi S, Pinto RM, Ruddle P, et al. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 2004;84(2):301-310. (Pubitemid 38834168)
-
(2004)
Genomics
, vol.84
, Issue.2
, pp. 301-310
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ruddle, P.3
Carroll, C.4
Webster, Z.5
Pook, M.6
-
54
-
-
33749638768
-
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
-
DOI 10.1016/j.ygeno.2006.06.015, PII S0888754306001972
-
Al-Mahdawi S, Pinto RM, Varshney D, et al. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 2006;88(5):580-590. (Pubitemid 44540244)
-
(2006)
Genomics
, vol.88
, Issue.5
, 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
-
55
-
-
33845652267
-
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
-
DOI 10.1007/s00439-006-0249-3
-
Clark RM, De Biase I, Malykhina AP, et al. The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet 2007;120(5):633-640. (Pubitemid 44942847)
-
(2007)
Human Genetics
, vol.120
, Issue.5
, pp. 633-640
-
-
Clark, R.M.1
De Biase, I.2
Malykhina, A.P.3
Al-Mahdawi, S.4
Pook, M.5
Bidichandani, S.I.6
-
56
-
-
0032971328
-
Increased iron in the dentate nucleus of patients with Friedreich's ataxia
-
DOI 10.1002/1531-8249(199907)46:1<123::AID-ANA19>3.0.CO;2-H
-
Waldvogel D, van Gelderen P, Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol 1999;46(1):123-125. (Pubitemid 29314392)
-
(1999)
Annals of Neurology
, vol.46
, Issue.1
, pp. 123-125
-
-
Waldvogel, D.1
Van Gelderen, P.2
Hallett, M.3
-
58
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17(2):215-217.
-
(1997)
Nat Genet
, vol.17
, Issue.2
, pp. 215-217
-
-
Rotig, A.1
De Lonlay, P.2
Chretien, D.3
-
59
-
-
0032800601
-
Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain
-
DOI 10.1016/S0014-5793(99)00961-8, PII S0014579399009618
-
Foury F. Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. FEBS Lett 1999;456(2):281-284. (Pubitemid 29352308)
-
(1999)
FEBS Letters
, vol.456
, Issue.2
, pp. 281-284
-
-
Foury, F.1
-
60
-
-
0037064027
-
The ferroxidase activity of yeast frataxin
-
DOI 10.1074/jbc.M206711200
-
Park S, Gakh O, Mooney SM, et al. The ferroxidase activity of yeast frataxin. J Biol Chem 2002;277(41):38589-38595. (Pubitemid 35154719)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.41
, pp. 38589-38595
-
-
Park, S.1
Gakh, O.2
Mooney, S.M.3
Isaya, G.4
-
61
-
-
0042232045
-
Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation
-
DOI 10.1074/jbc.M303158200
-
Park S, Gakh O, O'Neill HA, et al. Yeast frataxin sequentially chaperones and stores iron by coupling protein assembly with iron oxidation. J Biol Chem 2003;278(33):31340-31351. (Pubitemid 36994654)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.33
, 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
-
62
-
-
33746883937
-
Monomeric yeast frataxin is an iron-binding protein
-
DOI 10.1021/bi060424r
-
Cook JD, Bencze KZ, Jankovic AD, et al. Monomeric yeast frataxin is an iron-binding protein. Biochemistry 2006;45(25):7767-7777. (Pubitemid 44185493)
-
(2006)
Biochemistry
, vol.45
, Issue.25
, 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
-
63
-
-
0037846093
-
Structure of frataxin iron cores: An X-ray absorption spectroscopic study
-
DOI 10.1021/bi027021l
-
Nichol H, Gakh O, O'Neill HA, et al. Structure of frataxin iron cores: an X-ray absorption spectroscopic study. Biochemistry 2003;42(20):5971-5976. (Pubitemid 36605099)
-
(2003)
Biochemistry
, vol.42
, Issue.20
, pp. 5971-5976
-
-
Nichol, H.1
Gakh, O.2
O'Neill, H.A.3
Pickering, I.J.4
Isaya, G.5
George, G.N.6
-
64
-
-
0036472291
-
Assembly and iron-binding properties of human frataxin, the protein dificient in Friedreich ataxia
-
Cavadini P, O'Neill HA, Benada O, et al. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum Mol Genet 2002;11(3): 217-227. (Pubitemid 34173351)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.3
, pp. 217-227
-
-
Cavadini, P.1
O'Neill, H.A.2
Benada, O.3
Isaya, G.4
-
65
-
-
0035816608
-
A human mitochondrial ferritin encoded by an intronless gene
-
Levi S, Corsi B, Bosisio M, et al. A human mitochondrial ferritin encoded by an intronless gene. J Biol Chem 2001;276(27):24437-24440.
-
(2001)
J Biol Chem
, vol.276
, Issue.27
, pp. 24437-24440
-
-
Levi, S.1
Corsi, B.2
Bosisio, M.3
-
66
-
-
5444262935
-
The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast
-
DOI 10.1093/hmg/ddh232
-
Campanella A, Isaya G, O'Neill HA, et al. The expression of human mitochondrial ferritin rescues respiratory function infrataxin-deficient yeast. Hum Mol Genet 2004;13(19): 2279-2288. (Pubitemid 39359926)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.19
, pp. 2279-2288
-
-
Campanella, A.1
Isaya, G.2
O'Neill, H.A.3
Santambrogio, P.4
Cozzi, A.5
Arosio, P.6
Levi, S.7
-
67
-
-
0037093206
-
Erythroid differentiation and protoporphyrin IX down-regulate frataxin expression in Friend cells: Characterization of frataxin expression compared to molecules involved in iron metabolism and hemoglobinization
-
DOI 10.1182/blood.V99.10.3813
-
Becker EM, Greer JM, Ponka P, et al. Erythroid differentiation and protoporphyrin IX downregulate frataxin expression in Friend cells: characterization of frataxin expression compared to molecules involved in iron metabolism and hemoglobinization. Blood 2002;99(10): 3813-3822. (Pubitemid 34534556)
-
(2002)
Blood
, vol.99
, Issue.10
, pp. 3813-3822
-
-
Becker, E.M.1
Greer, J.M.2
Ponka, P.3
Richardson, D.R.4
-
68
-
-
2942744572
-
Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis
-
DOI 10.1074/jbc.C400107200
-
Yoon T, Cowan JA. Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis. J Biol Chem 2004;279(25):25943-25946. (Pubitemid 38798734)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.25
, pp. 25943-25946
-
-
Yoon, T.1
Cowan, J.A.2
-
69
-
-
0037447390
-
Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1)
-
DOI 10.1093/hmg/ddg096
-
Lesuisse E, Santos R, Matzanke BF, et al. Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1). Hum Mol Genet 2003;12(8):879-889. (Pubitemid 36504030)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.8
, pp. 879-889
-
-
Lesuisse, E.1
Santos, R.2
Matzanke, B.F.3
Knight, S.A.B.4
Camadro, J.-M.5
Dancis, A.6
-
70
-
-
3142722152
-
The heme synthesis defect of mutants impaired in mitochondrial iron-sulfur protein biogenesis is caused by reversible inhibition of ferrochelatase
-
DOI 10.1074/jbc.M403721200
-
Lange H, Muhlenhoff U, Denzel M, et al. The heme synthesis defect of mutants impaired in mitochondrial iron-sulfur protein biogenesis is caused by reversible inhibition of ferrochelatase. J Biol Chem 2004;279(28):29101-29108. (Pubitemid 38915781)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.28
, pp. 29101-29108
-
-
Lange, H.1
Muhlenhoff, U.2
Denzel, M.3
Kispal, G.4
Lill, R.5
-
71
-
-
33646696625
-
Frataxin, iron-sulfur clusters, heme, ROS, and aging
-
Napoli E, Taroni F, Cortopassi GA. Frataxin, iron-sulfur clusters, heme, ROS, and aging. Antioxid Redox Signal 2006;8(3-4):506-516.
-
(2006)
Antioxid Redox Signal
, vol.8
, Issue.3-4
, pp. 506-516
-
-
Napoli, E.1
Taroni, F.2
Cortopassi, G.A.3
-
72
-
-
34250223092
-
Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells
-
DOI 10.1016/j.bbadis.2007.04.001, PII S0925443907000877
-
Napoli E, Morin D, Bernhardt R, et al. Hemin rescues adrenodoxin, heme a and cytochrome oxidase activity in frataxin-deficient oligodendroglioma cells. Biochim Biophys Acta 2007;1772(7):773-780. (Pubitemid 46900883)
-
(2007)
Biochimica et Biophysica Acta - Molecular Basis of Disease
, vol.1772
, Issue.7
, pp. 773-780
-
-
Napoli, E.1
Morin, D.2
Bernhardt, R.3
Buckpitt, A.4
Cortopassi, G.5
-
73
-
-
0037101845
-
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins
-
Muhlenhoff U, Richhardt N, Ristow M, et al. The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum Mol Genet 2002;11(17): 2025-2036. (Pubitemid 34919277)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.17
, pp. 2025-2036
-
-
Muhlenhoff, U.1
Richhardt, N.2
Ristow, M.3
Kispal, G.4
Lill, R.5
-
74
-
-
0036799372
-
A non-essential function for yeast frataxin in iron-sulfur cluster assembly
-
Duby G, Foury F, Ramazzotti A, et al. A non-essential function for yeast frataxin in ironsulfur cluster assembly. Hum Mol Genet 2002;11(21):2635-2643. (Pubitemid 35174693)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.21
, pp. 2635-2643
-
-
Duby, G.1
Foury, F.2
Ramazzotti, A.3
Herrmann, J.4
Lutz, T.5
-
75
-
-
0032746009
-
The essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins
-
DOI 10.1515/BC.1999.147
-
Lill R, Diekert K, Kaut A, et al. The essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins. Biol Chem 1999;380(10):1157- 1166. (Pubitemid 29516404)
-
(1999)
Biological Chemistry
, vol.380
, Issue.10
, pp. 1157-1166
-
-
Lill, R.1
Diekert, K.2
Kaut, A.3
Lange, H.4
Pelzer, W.5
Prohl, C.6
Kispal, G.7
-
76
-
-
33751177803
-
Iron-sulfur protein biogenesis in eukaryotes: Components and mechanisms
-
Lill R, Muhlenhoff U. Iron-sulfur protein biogenesis in eukaryotes: components and mechanisms. Annu Rev Cell Dev Biol 2006;22:457-486.
-
(2006)
Annu Rev Cell Dev Biol
, vol.22
, pp. 457-486
-
-
Lill, R.1
Muhlenhoff, U.2
-
77
-
-
0037613459
-
Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins
-
DOI 10.1021/ja027967i
-
Yoon T, Cowan JA. 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 2003;125(20):6078-6084. (Pubitemid 36582978)
-
(2003)
Journal of the American Chemical Society
, vol.125
, Issue.20
, pp. 6078-6084
-
-
Yoon, T.1
Cowan, J.A.2
-
78
-
-
0141623560
-
An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1
-
DOI 10.1038/sj.embor.embor918
-
Gerber J, Muhlenhoff U, Lill R. An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1. EMBO Rep 2003;4(9):906-911. (Pubitemid 37304409)
-
(2003)
EMBO Reports
, vol.4
, Issue.9
, pp. 906-911
-
-
Gerber, J.1
Muhlenhoff, U.2
Lill, R.3
-
79
-
-
1642573170
-
Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae
-
DOI 10.1016/S0014-5793(03)01498-4
-
Ramazzotti A, Vanmansart V, Foury F. Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae. FEBS Lett 2004;557(1-3):215-220. (Pubitemid 38115898)
-
(2004)
FEBS Letters
, vol.557
, Issue.1-3
, pp. 215-220
-
-
Ramazzotti, A.1
Vanmansart, V.2
Foury, F.3
-
80
-
-
34447316711
-
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones
-
DOI 10.1093/hmg/ddm038
-
Shan Y, Napoli E, Cortopassi G. Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. Hum Mol Genet 2007;16(8):929-941. (Pubitemid 47062737)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.8
, pp. 929-941
-
-
Shan, Y.1
Napoli, E.2
Cortopassi, G.3
-
81
-
-
46049102185
-
Drosophila frataxin: An iron chaperone during cellular Fe-S cluster bioassembly
-
DOI 10.1021/bi800366d
-
Kondapalli KC, Kok NM, Dancis A, et al. Drosophila frataxin: an iron chaperone during cellular Fe-S cluster bioassembly. Biochemistry 2008;47(26):6917-6927. (Pubitemid 351898946)
-
(2008)
Biochemistry
, vol.47
, Issue.26
, pp. 6917-6927
-
-
Kondapalli, K.C.1
Kok, N.M.2
Dancis, A.3
Stemmler, T.L.4
-
82
-
-
3042763187
-
Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity
-
DOI 10.1126/science.1098991
-
Bulteau AL, O'Neill HA, Kennedy MC, et al. Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 2004;305(5681):242-245. (Pubitemid 38886737)
-
(2004)
Science
, vol.305
, Issue.5681
, pp. 242-245
-
-
Bulteau, A.-L.1
O'Neill, H.A.2
Kennedy, M.C.3
Ikeda-Saito, M.4
Isaya, G.5
Szweda, L.I.6
-
83
-
-
0033613262
-
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
-
DOI 10.1073/pnas.96.20.11492
-
Lodi R, Cooper JM, Bradley JL, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci U S A 1999;96(20):11492-11495. (Pubitemid 29487408)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.20
, pp. 11492-11495
-
-
Lodi, R.1
Cooper, J.M.2
Bradley, J.L.3
Manners, D.4
Styles, P.5
Taylor, D.J.6
Schapira, A.H.V.7
-
84
-
-
0343717915
-
Frataxin activates mitochondrial energy conversion and oxidative phosphorylation
-
Ristow M, Pfister MF, Yee AJ, et al. Frataxin activates mitochondrial energy conversion and oxidative phosphorylation. Proc Natl Acad Sci U S A 2000;97(22):12239-12243.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, Issue.22
, pp. 12239-12243
-
-
Ristow, M.1
Pfister, M.F.2
Yee, A.J.3
-
85
-
-
4944240979
-
Functional and molecular characterization of the frataxin homolog from Arabidopsis thaliana
-
DOI 10.1016/j.febslet.2004.09.003, PII S0014579304011111
-
Busi MV, Zabaleta EJ, Araya A, et al. Functional and molecular characterization of the frataxin homolog from Arabidopsis thaliana. FEBS Lett 2004;576(1-2):141-144. (Pubitemid 39330472)
-
(2004)
FEBS Letters
, vol.576
, Issue.1-2
, pp. 141-144
-
-
Busi, M.V.1
Zabaleta, E.J.2
Araya, A.3
Gomez-Casati, D.F.4
-
86
-
-
26444566405
-
Frataxin interacts functionally with mitochondrial electron transport chain proteins
-
DOI 10.1093/hmg/ddi214
-
Gonzalez-Cabo P, Vazquez-Manrique RP, Garcia-Gimeno MA, et al. Frataxin interacts functionally with mitochondrial electron transport chain proteins. Hum Mol Genet 2005;14(15):2091-2098. (Pubitemid 41418009)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.15
, pp. 2091-2098
-
-
Gonzalez-Cabo, P.1
Vazquez-Manrique, R.P.2
Garcia-Gimeno, M.A.3
Sanz, P.4
Palau, F.5
-
87
-
-
0035020940
-
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
-
DOI 10.1002/ana.1001
-
Lodi R, Hart PE, Rajagopalan B, et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol 2001;49(5):590-596. (Pubitemid 32429786)
-
(2001)
Annals of Neurology
, vol.49
, Issue.5
, pp. 590-596
-
-
Lodi, R.1
Hart, P.E.2
Rajagopalan, B.3
Taylor, D.J.4
Crilley, J.G.5
Bradley, J.L.6
Blamire, A.M.7
Manners, D.8
Styles, P.9
Schapira, A.H.V.10
Cooper, J.M.11
-
88
-
-
20144389286
-
Antioxidant treatment of patients with Friedreich ataxia: Four-year follow-up
-
DOI 10.1001/archneur.62.4.621
-
Hart PE, Lodi R, Rajagopalan B, et al. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol 2005;62(4):621-626. (Pubitemid 40489896)
-
(2005)
Archives of Neurology
, vol.62
, Issue.4
, pp. 621-626
-
-
Hart, P.E.1
Lodi, R.2
Rajagopalan, B.3
Bradley, J.L.4
Crilley, J.G.5
Turner, C.6
Blamire, A.M.7
Manners, D.8
Styles, P.9
Schapira, A.H.V.10
Cooper, J.M.11
-
89
-
-
0036398010
-
10 and idebenone in the therapy of respiratory chain diseases: Rationale and comparative benefits
-
DOI 10.1016/S1096-7192(02)00145-2, PII S1096719202001452
-
Geromel V, Darin N, Chretien D, et al. Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab 2002;77(1- 2):21-30. (Pubitemid 35178511)
-
(2002)
Molecular Genetics and Metabolism
, vol.77
, Issue.1-2
, pp. 21-30
-
-
Geromel, V.1
Darin, N.2
Chretien, D.3
Benit, P.4
DeLonlay, P.5
Rotig, A.6
Munnich, A.7
Rustin, P.8
-
90
-
-
0037849955
-
Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial
-
Mariotti C, Solari A, Torta D, et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003;60(10):1676-1679. (Pubitemid 36618100)
-
(2003)
Neurology
, vol.60
, Issue.10
, pp. 1676-1679
-
-
Mariotti, C.1
Solari, A.2
Torta, D.3
Marano, L.4
Fiorentini, C.5
Di Donato, S.6
-
91
-
-
34247159966
-
Neurological, Cardiological, and Oculomotor Progression in 104 Patients with Friedreich ataxia during long-term follow-up
-
Ribai P, Pousset F, Tanguy ML, et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch Neurol 2007;64(4):558-564. (Pubitemid 46588346)
-
(2007)
Archives of Neurology
, vol.64
, Issue.4
, pp. 558-564
-
-
Ribai, P.1
Pousset, F.2
Tanguy, M.-L.3
Rivaud-Pechoux, S.4
Le Ber, I.5
Gasparini, F.6
Charles, P.7
Beraud, A.-S.8
Schmitt, M.9
Koenig, M.10
Mallet, A.11
Brice, A.12
Durr, A.13
-
92
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
-
DOI 10.1016/S0140-6736(99)01341-0
-
Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999;354(9177):477-479. (Pubitemid 29368927)
-
(1999)
Lancet
, vol.354
, Issue.9177
, pp. 477-479
-
-
Rustin, P.1
Von Kleist-Retzow, J.-C.2
Chantrel-Groussard, K.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
-
93
-
-
34548606803
-
Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: A randomised, placebo-controlled trial
-
DOI 10.1016/S1474-4422(07)70220-X, PII S147444220770220X
-
Di Prospero NA, Baker A, Jeffries N, et al. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 2007;6(10):878-886. (Pubitemid 47404985)
-
(2007)
Lancet Neurology
, vol.6
, Issue.10
, pp. 878-886
-
-
Di Prospero, N.A.1
Baker, A.2
Jeffries, N.3
Fischbeck, K.H.4
-
94
-
-
52249089314
-
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up
-
Pineda M, Arpa J, Montero R, et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol 2008;12(6):470-475.
-
(2008)
Eur J Paediatr Neurol
, vol.12
, Issue.6
, pp. 470-475
-
-
Pineda, M.1
Arpa, J.2
Montero, R.3
-
95
-
-
0035895888
-
Selective targeting of a redox-active ubiquinone to mitochondria within cells: Antioxidant and antiapoptotic properties
-
Kelso GF, Porteous CM, Coulter CV, et al. Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties. J Biol Chem 2001;276(7):4588-4596.
-
(2001)
J Biol Chem
, vol.276
, Issue.7
, pp. 4588-4596
-
-
Kelso, G.F.1
Porteous, C.M.2
Coulter, C.V.3
-
96
-
-
0348136710
-
Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants
-
Jauslin ML, Meier T, Smith RA, et al. Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants. Faseb J 2003;17(13):1972-1974.
-
(2003)
Faseb J
, vol.17
, Issue.13
, pp. 1972-1974
-
-
Jauslin, M.L.1
Meier, T.2
Smith, R.A.3
-
97
-
-
34347370842
-
Selective iron chelation in Friedreich ataxia: Biologic and clinical implications
-
DOI 10.1182/blood-2006-12-065433
-
Boddaert N, Le Quan Sang KH, Rotig A, et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 2007;110(1):401-408. (Pubitemid 47026862)
-
(2007)
Blood
, vol.110
, Issue.1
, pp. 401-408
-
-
Boddaert, N.1
Sang, K.H.L.Q.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
-
98
-
-
58149402407
-
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation
-
Kakhlon O, Manning H, Breuer W, et al. Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. Blood 2008;112(13):5219-5227.
-
(2008)
Blood
, vol.112
, Issue.13
, pp. 5219-5227
-
-
Kakhlon, O.1
Manning, H.2
Breuer, W.3
-
99
-
-
46749101742
-
Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment
-
Goncalves S, Paupe V, Dassa EP, et al. Deferiprone targets aconitase: implication for Friedreich's ataxia treatment. BMC Neurol 2008;8:20.
-
(2008)
BMC Neurol
, vol.8
, pp. 20
-
-
Goncalves, S.1
Paupe, V.2
Dassa, E.P.3
-
100
-
-
45749092571
-
Protection against hydrogen peroxide-mediated cytotoxicity in Friedreich's ataxia fibroblasts using novel iron chelators of the 2-pyridylcarboxaldehyde isonicotinoyl hydrazone class
-
DOI 10.1124/mol.108.046847
-
Lim CK, Kalinowski DS, Richardson DR. Protection against hydrogen peroxide-mediated cytotoxicity in Friedreich's ataxia fibroblasts using novel iron chelators of the 2- pyridylcarboxaldehyde isonicotinoyl hydrazone class. Mol Pharmacol 2008;74(1):225-235. (Pubitemid 351872173)
-
(2008)
Molecular Pharmacology
, vol.74
, Issue.1
, pp. 225-235
-
-
Lim, C.K.1
Kalinowski, D.S.2
Richardson, D.R.3
-
102
-
-
1642395912
-
The cardiovascular effects of erythropoietin
-
DOI 10.1016/S0008-6363(03)00468-1, PII S0008636303004681
-
Smith KJ, Bleyer AJ, Little WC, et al. The cardiovascular effects of erythropoietin. Cardiovasc Res 2003;59(3):538-548. (Pubitemid 38368670)
-
(2003)
Cardiovascular Research
, vol.59
, Issue.3
, pp. 538-548
-
-
Smith, K.J.1
Bleyer, A.J.2
Little, W.C.3
Sane, D.C.4
-
103
-
-
27844526573
-
Recombinant human erythropoietin: Effects on frataxin expression in vitro
-
DOI 10.1111/j.1365-2362.2005.01568.x
-
Sturm B, Stupphann D, Kaun C, et al. Recombinant human erythropoietin: effects on frataxin expression in vitro. Eur J Clin Invest 2005;35(11):711-717. (Pubitemid 41640907)
-
(2005)
European Journal of Clinical Investigation
, vol.35
, Issue.11
, 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
-
104
-
-
33748796912
-
Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia
-
Grant L, Sun J, Xu H, et al. Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia. FEBS Lett 2006;580(22):5399-53405.
-
(2006)
FEBS Lett
, vol.580
, Issue.22
, pp. 5399-53405
-
-
Grant, L.1
Sun, J.2
Xu, H.3
-
105
-
-
0037832279
-
Recognition of the DNA minor groove by pyrrole-imidazole polyamides
-
DOI 10.1016/S0959-440X(03)00081-2
-
Dervan PB, Edelson BS. Recognition of the DNA minor groove by pyrrole-imidazole polyamides. Curr Opin Struct Biol 2003;13(3):284-299. (Pubitemid 36782454)
-
(2003)
Current Opinion in Structural Biology
, vol.13
, Issue.3
, pp. 284-299
-
-
Dervan, P.B.1
Edelson, B.S.2
-
106
-
-
33746795976
-
DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia
-
DOI 10.1073/pnas.0604939103
-
Burnett R, Melander C, Puckett JW, et al. DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia. Proc Natl Acad Sci U S A 2006;103(31):11497- 11502. (Pubitemid 44182480)
-
(2006)
Proceedings of the National Academy of Sciences of the United States of America
, vol.103
, Issue.31
, 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
-
107
-
-
0038448961
-
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia
-
DOI 10.1002/jgm.320
-
Sarsero JP, Li L, ,Wardan H, et al. Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. J Gene Med 2003;5(1):72-81. (Pubitemid 40310369)
-
(2003)
Journal of Gene Medicine
, vol.5
, Issue.1
, pp. 72-81
-
-
Sarsero, J.P.1
Li, L.2
Wardan, H.3
Sitte, K.4
Williamson, R.5
Ioannou, P.A.6
-
108
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
DOI 10.1038/nchembio815, PII NCHEMBIO815
-
Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2006;2(10):551-8. (Pubitemid 44413238)
-
(2006)
Nature Chemical Biology
, vol.2
, Issue.10
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
109
-
-
44349114629
-
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
-
Rai M, Soragni E, Jenssen K, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 2008;3(4):e1958.
-
(2008)
PLoS ONE
, vol.3
, Issue.4
-
-
Rai, M.1
Soragni, E.2
Jenssen, K.3
|