-
1
-
-
33749638768
-
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
-
Al-Mahdawi S., et al. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 2006, 88:580-590.
-
(2006)
Genomics
, vol.88
, pp. 580-590
-
-
Al-Mahdawi, S.1
-
2
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
Al-Mahdawi S., et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum. Mol. Genet. 2008, 17:735-746.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 735-746
-
-
Al-Mahdawi, S.1
-
3
-
-
77954447250
-
Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question
-
Armstrong J.S., Khdour O., Hecht S.M. Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question. FASEB J. 2010, 24:2152-2163.
-
(2010)
FASEB J.
, vol.24
, pp. 2152-2163
-
-
Armstrong, J.S.1
Khdour, O.2
Hecht, S.M.3
-
4
-
-
0036694802
-
Friedreich's ataxia: idebenone treatment in early stage patients
-
Artuch R., et al. Friedreich's ataxia: idebenone treatment in early stage patients. Neuropediatrics 2002, 33:190-193.
-
(2002)
Neuropediatrics
, vol.33
, pp. 190-193
-
-
Artuch, R.1
-
5
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock M., et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997, 276:1709-1712.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
-
6
-
-
34347370842
-
Selective iron chelation in Friedreich ataxia: biologic and clinical implications
-
Boddaert N., et al. Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 2007, 110:401-408.
-
(2007)
Blood
, vol.110
, pp. 401-408
-
-
Boddaert, N.1
-
7
-
-
2342472071
-
The Drosophila carbonyl reductase sniffer prevents oxidative stress-induced neurodegeneration
-
Botella J.A., et al. The Drosophila carbonyl reductase sniffer prevents oxidative stress-induced neurodegeneration. Curr. Biol. 2004, 14:782-786.
-
(2004)
Curr. Biol.
, vol.14
, pp. 782-786
-
-
Botella, J.A.1
-
8
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
Bradley J.L., Blake J.C., Chamberlain S., Thomas P.K., Cooper J.M., Schapira A.H. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum. Mol. Genet. 2000, 9:275-282.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 275-282
-
-
Bradley, J.L.1
Blake, J.C.2
Chamberlain, S.3
Thomas, P.K.4
Cooper, J.M.5
Schapira, A.H.6
-
9
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996, 271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
-
11
-
-
0034192352
-
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
-
Cossée M., et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum. Mol. Genet. 2000, 9:1219-1226.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1219-1226
-
-
Cossée, M.1
-
12
-
-
80051658907
-
Brain iron metabolism and its perturbation in neurological diseases
-
Crichton R.R., Dexter D.T., Ward R.J. Brain iron metabolism and its perturbation in neurological diseases. J. Neural Transm. 2011, 118:301-314.
-
(2011)
J. Neural Transm.
, vol.118
, pp. 301-314
-
-
Crichton, R.R.1
Dexter, D.T.2
Ward, R.J.3
-
13
-
-
0035890871
-
Selectivity of protein oxidative damage during aging in Drosophila melanogaster
-
Das N., Levine R.L., Orr W.C., Sohal R.S. Selectivity of protein oxidative damage during aging in Drosophila melanogaster. Biochem. J. 2001, 360:209-216.
-
(2001)
Biochem. J.
, vol.360
, pp. 209-216
-
-
Das, N.1
Levine, R.L.2
Orr, W.C.3
Sohal, R.S.4
-
14
-
-
9644301105
-
Age-related impairment of mitochondrial matrix aconitase and ATP-stimulated protease in rat liver and heart
-
Delaval E., Perichon M., Friguet B. Age-related impairment of mitochondrial matrix aconitase and ATP-stimulated protease in rat liver and heart. Eur. J. Biochem. 2004, 271:4559-4564.
-
(2004)
Eur. J. Biochem.
, vol.271
, pp. 4559-4564
-
-
Delaval, E.1
Perichon, M.2
Friguet, B.3
-
15
-
-
34548606803
-
Neurological effects of high dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial
-
Di Prospero N.A., Baker A., Jeffries N., Fischbeck K.H. Neurological effects of high dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol. 2007, 6:878-886.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 878-886
-
-
Di Prospero, N.A.1
Baker, A.2
Jeffries, N.3
Fischbeck, K.H.4
-
16
-
-
0034642214
-
Increased levels of plasma malondialdehyde in Friedreich ataxia
-
Emond M., Lepage G., Vanasse M., Pandolfo M. Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology 2000, 55:1752-1753.
-
(2000)
Neurology
, vol.55
, pp. 1752-1753
-
-
Emond, M.1
Lepage, G.2
Vanasse, M.3
Pandolfo, M.4
-
17
-
-
0032800601
-
Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain
-
Foury F. Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. FEBS Lett. 1999, 456:281-284.
-
(1999)
FEBS Lett.
, vol.456
, pp. 281-284
-
-
Foury, F.1
-
18
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
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, 411:373-377.
-
(1997)
FEBS Lett.
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
19
-
-
45749099371
-
Genetic and chemical modifiers of a CUG toxicity model in Drosophila
-
Garcia-Lopez A., Monferrer L., Garcia-Alcover I., Vicente-Crespo M., Alvarez-Abril M.C., Artero R.D. Genetic and chemical modifiers of a CUG toxicity model in Drosophila. PLoS One 2008, 3:e1595.
-
(2008)
PLoS One
, vol.3
-
-
Garcia-Lopez, A.1
Monferrer, L.2
Garcia-Alcover, I.3
Vicente-Crespo, M.4
Alvarez-Abril, M.C.5
Artero, R.D.6
-
20
-
-
79961062490
-
In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models
-
García-López A., Llamusí B., Orzáez M., Pérez-Payá E., Artero R.D. In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:11866-11871.
-
(2011)
Proc. Natl. Acad. Sci. U. S. A.
, vol.108
, pp. 11866-11871
-
-
García-López, A.1
Llamusí, B.2
Orzáez, M.3
Pérez-Payá, E.4
Artero, R.D.5
-
21
-
-
46749101742
-
Deferiprone targets aconitase: implication for Friedreich's ataxia treatment
-
Goncalves S., Paupe V., Dassa E.P., Rustin P. 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
Rustin, P.4
-
22
-
-
77950354456
-
Friedreich ataxia: an update on animal models, frataxin function and therapies
-
González-Cabo P., Llorens J.V., Palau F., Moltó M.D. Friedreich ataxia: an update on animal models, frataxin function and therapies. Adv. Exp. Med. Biol. 2009, 652:247-261.
-
(2009)
Adv. Exp. Med. Biol.
, vol.652
, pp. 247-261
-
-
González-Cabo, P.1
Llorens, J.V.2
Palau, F.3
Moltó, M.D.4
-
23
-
-
0019782799
-
Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding A.E. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981, 104:589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
24
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding A.E. Clinical features and classification of inherited ataxias. Adv. Neurol. 1993, 61:1-14.
-
(1993)
Adv. Neurol.
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
25
-
-
76749143747
-
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology
-
Haugen A.C., et al. Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology. PLoS Genet. 2010, 6:e1000812.
-
(2010)
PLoS Genet.
, vol.6
-
-
Haugen, A.C.1
-
26
-
-
77954321829
-
Drosophila melanogaster in the study of human neurodegeneration
-
Hirth F. Drosophila melanogaster in the study of human neurodegeneration. CNS Neurol. Disord. Drug Targets 2010, 9:504-523.
-
(2010)
CNS Neurol. Disord. Drug Targets
, vol.9
, pp. 504-523
-
-
Hirth, F.1
-
27
-
-
58149402407
-
Cell functions impaired by frataxin deficiency are restored by drug mediated iron relocation
-
Kakhlon O., et al. Cell functions impaired by frataxin deficiency are restored by drug mediated iron relocation. Blood 2008, 112:5219-5227.
-
(2008)
Blood
, vol.112
, pp. 5219-5227
-
-
Kakhlon, O.1
-
28
-
-
0037059057
-
RNA interference-mediated silencing of Sod2 in Drosophila leads to early adult-onset mortality and elevated endogenous oxidative stress
-
Kirby K., Hu J., Hilliker A.J., Phillips J.P. RNA interference-mediated silencing of Sod2 in Drosophila leads to early adult-onset mortality and elevated endogenous oxidative stress. Proc. Natl. Acad. Sci. U. S. A. 2002, 99:16162-16167.
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 16162-16167
-
-
Kirby, K.1
Hu, J.2
Hilliker, A.J.3
Phillips, J.P.4
-
29
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H., Campuzano V., Foury F., Dollé P., Cazzalini O., Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat. Genet. 1997, 16:345-351.
-
(1997)
Nat. Genet.
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dollé, P.4
Cazzalini, O.5
Koenig, M.6
-
30
-
-
79952451186
-
Idebenone in Friedreich ataxia cardiomyopathy results from a 6-month phase III study (IONIA)
-
(639-645.e1)
-
Lagedrost S.J., et al. Idebenone in Friedreich ataxia cardiomyopathy results from a 6-month phase III study (IONIA). Am. Heart J. 2011, 161. (639-645.e1).
-
(2011)
Am. Heart J.
, vol.161
-
-
Lagedrost, S.J.1
-
31
-
-
0019169563
-
The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases
-
Lamarche J.B., CÔté M., Lemieux B. The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can. J. Neurol. Sci. 1980, 7:389-396.
-
(1980)
Can. J. Neurol. Sci.
, vol.7
, pp. 389-396
-
-
Lamarche, J.B.1
CÔté, M.2
Lemieux, B.3
-
32
-
-
47249127786
-
Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia
-
Li K., Besse E.K., Ha D., Kovtunovych G., Rouault T.A. Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum. Mol. Genet. 2008, 17:2265-2273.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2265-2273
-
-
Li, K.1
Besse, E.K.2
Ha, D.3
Kovtunovych, G.4
Rouault, T.A.5
-
33
-
-
33846794302
-
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
-
Llorens J.V., et al. Causative role of oxidative stress in a Drosophila model of Friedreich ataxia. FASEB J. 2007, 21:333-344.
-
(2007)
FASEB J.
, vol.21
, pp. 333-344
-
-
Llorens, J.V.1
-
34
-
-
77955450939
-
A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia
-
Lynch D.R., Perlman S.L., Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch. Neurol. 2010, 67:941-947.
-
(2010)
Arch. Neurol.
, vol.67
, pp. 941-947
-
-
Lynch, D.R.1
Perlman, S.L.2
Meier, T.3
-
35
-
-
0037849955
-
Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial
-
Mariotti C., Solari A., Torta D., Marano L., Fiorentini C., Di Donato S. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 2003, 60:1676-1679.
-
(2003)
Neurology
, vol.60
, pp. 1676-1679
-
-
Mariotti, C.1
Solari, A.2
Torta, D.3
Marano, L.4
Fiorentini, C.5
Di Donato, S.6
-
36
-
-
62549120780
-
Idebenone: an emerging therapy for Friedreich ataxia
-
Meier T., Buyse G. Idebenone: an emerging therapy for Friedreich ataxia. J. Neurol. 2009, 256(Suppl. 1):25-30.
-
(2009)
J. Neurol.
, vol.256
, Issue.SUPPL. 1
, pp. 25-30
-
-
Meier, T.1
Buyse, G.2
-
37
-
-
84856732716
-
Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6month controlled study followed by a 12-month open-label extension study
-
Meier T., Perlman S.L., Rummey C., Coppard N.J., Lynch D.R. Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6month controlled study followed by a 12-month open-label extension study. J. Neurol. 2012, 259:284-291.
-
(2012)
J. Neurol.
, vol.259
, pp. 284-291
-
-
Meier, T.1
Perlman, S.L.2
Rummey, C.3
Coppard, N.J.4
Lynch, D.R.5
-
38
-
-
0030862745
-
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monrós E., et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am. J. Hum. Genet. 1997, 61:101-110.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 101-110
-
-
Monrós, E.1
-
39
-
-
79955749505
-
Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery
-
Pandey U.B., Nichols C.D. Human disease models in Drosophila melanogaster and the role of the fly in therapeutic drug discovery. Pharmacol. Rev. 2011, 63:411-436.
-
(2011)
Pharmacol. Rev.
, vol.63
, pp. 411-436
-
-
Pandey, U.B.1
Nichols, C.D.2
-
40
-
-
62549117369
-
Friedreich ataxia: the clinical picture
-
Pandolfo M. Friedreich ataxia: the clinical picture. J. Neurol. 2009, 256(Suppl. 1):3-8.
-
(2009)
J. Neurol.
, vol.256
, Issue.SUPPL. 1
, pp. 3-8
-
-
Pandolfo, M.1
-
41
-
-
64249161639
-
Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia
-
Paupe V., et al. Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia. PLoS One 2009, 4:e4253.
-
(2009)
PLoS One
, vol.4
-
-
Paupe, V.1
-
42
-
-
52249089314
-
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up
-
Pineda M., et al. Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur. J. Paediatr. Neurol. 2008, 12:470-475.
-
(2008)
Eur. J. Paediatr. Neurol.
, vol.12
, pp. 470-475
-
-
Pineda, M.1
-
43
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
Puccio H., 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, 27:181-186.
-
(2001)
Nat. Genet.
, vol.27
, pp. 181-186
-
-
Puccio, H.1
-
44
-
-
34247159966
-
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up
-
Ribaï P., et al. Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up. Arch. Neurol. 2007, 64:558-564.
-
(2007)
Arch. Neurol.
, vol.64
, pp. 558-564
-
-
Ribaï, P.1
-
45
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rötig A., et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 1997, 17:215-217.
-
(1997)
Nat. Genet.
, vol.17
, pp. 215-217
-
-
Rötig, A.1
-
46
-
-
0017031971
-
Pathology of the heart in Friedreich's ataxia: review of the literature and report of one case
-
Sanchez-Casis G., Cote M., Barbeau A. Pathology of the heart in Friedreich's ataxia: review of the literature and report of one case. Can. J. Neurol. Sci. 1976, 3:349-354.
-
(1976)
Can. J. Neurol. Sci.
, vol.3
, pp. 349-354
-
-
Sanchez-Casis, G.1
Cote, M.2
Barbeau, A.3
-
47
-
-
77953902544
-
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches
-
Schmucker S., Puccio H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum. Mol. Genet. 2010, 19:R103-R110.
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Schmucker, S.1
Puccio, H.2
-
48
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: a European perspective
-
Schulz J.B., et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat. Rev. Neurol. 2009, 5:222-234.
-
(2009)
Nat. Rev. Neurol.
, vol.5
, pp. 222-234
-
-
Schulz, J.B.1
-
49
-
-
38949197818
-
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications
-
Sohn Y.-S., Breuer W., Munnich A., Cabantchik Z.I. Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood 2008, 111:1690-1699.
-
(2008)
Blood
, vol.111
, pp. 1690-1699
-
-
Sohn, Y.-S.1
Breuer, W.2
Munnich, A.3
Cabantchik, Z.I.4
-
50
-
-
14844337832
-
Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?
-
Sturm B., et al. Friedreich's ataxia, no changes in mitochondrial labile iron in human lymphoblasts and fibroblasts: a decrease in antioxidative capacity?. J. Biol. Chem. 2005, 280:6701-6708.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 6701-6708
-
-
Sturm, B.1
-
51
-
-
79952694447
-
Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia
-
Velasco-Sánchez D., et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum 2011, 10:1-8.
-
(2011)
Cerebellum
, vol.10
, pp. 1-8
-
-
Velasco-Sánchez, D.1
-
52
-
-
1542350111
-
Friedreich ataxia-update on pathogenesis and possible therapies
-
Voncken M., Ioannou P., Delatycki M.B. Friedreich ataxia-update on pathogenesis and possible therapies. Neurogenetics 2004, 5:1-8.
-
(2004)
Neurogenetics
, vol.5
, pp. 1-8
-
-
Voncken, M.1
Ioannou, P.2
Delatycki, M.B.3
-
53
-
-
0032971328
-
Increased iron in the dentate nucleus of patients with Friedrich's ataxia
-
Waldvogel D., van Gelderen P., Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann. Neurol. 1999, 46:123-125.
-
(1999)
Ann. Neurol.
, vol.46
, pp. 123-125
-
-
Waldvogel, D.1
van Gelderen, P.2
Hallett, M.3
|