-
1
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, DeMichele G, Filla A, DeFrutos R, Palau F, Patel PI, DiDonato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M (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
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
DeMichele, G.18
Filla, A.19
DeFrutos, R.20
Palau, F.21
Patel, P.I.22
DiDonato, S.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
2
-
-
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 S J, Faucheux B, Trouillas P, Authier FJ, Durr A, Mandel J L, Vescovi A, Pandolfo M, Koenig M (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
Authier, F.J.11
Durr, A.12
Mandel, J.L.13
Vescovi, A.14
Pandolfo, M.15
Koenig, M.16
-
3
-
-
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 AE (1981) 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 104:589-620
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
4
-
-
0021067564
-
The heart disease of Friedreich's ataxia: A clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases
-
Harding AE, Hewer RL (1983) The heart disease of Friedreich's ataxia: A clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med 52:489-502
-
(1983)
Q J Med
, vol.52
, pp. 489-502
-
-
Harding, A.E.1
Hewer, R.L.2
-
5
-
-
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, Koenig M (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27:181-186
-
(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
-
6
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17:215-277
-
(1997)
Nat Genet
, vol.17
, pp. 215-277
-
-
Rotig, A.1
de Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
7
-
-
0032800601
-
Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain
-
Foury F (1999) Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. FEBS Lett 456:281-294
-
(1999)
FEBS Lett
, vol.456
, pp. 281-294
-
-
Foury, F.1
-
8
-
-
0034642203
-
Oxidative stress in patients with Friedreich ataxia
-
Schulz JB, Dehmer T, Schols L, Mende H, Hardt C, Vorgerd M, Burk K, Matson W, Dichgans J, Beal MF, Bogdanov MB (2000) Oxidative stress in patients with Friedreich ataxia. Neurology 55:1719-1721
-
(2000)
Neurology
, vol.55
, pp. 1719-1721
-
-
Schulz, J.B.1
Dehmer, T.2
Schols, L.3
Mende, H.4
Hardt, C.5
Vorgerd, M.6
Burk, K.7
Matson, W.8
Dichgans, J.9
Beal, M.F.10
Bogdanov, M.B.11
-
9
-
-
0035780208
-
Glutathione in blood of patients with Friedreich's ataxia
-
Piemonte F, Pastore A, Tozzi G, Tagliacozzi D, Santorelli F M, Carrozzo R, Casali C, Damiano M, Federici G, Bertini E (2001) Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest 31:1007-1011
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 1007-1011
-
-
Piemonte, F.1
Pastore, A.2
Tozzi, G.3
Tagliacozzi, D.4
Santorelli, F.M.5
Carrozzo, R.6
Casali, C.7
Damiano, M.8
Federici, G.9
Bertini, E.10
-
10
-
-
0034642214
-
Increased levels of plasma malondialdehyde in Friedreich ataxia
-
Emond M, Lepage G, Vanasse M, Pandolfo M (2000) Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology 55:1752-1753
-
(2000)
Neurology
, vol.55
, pp. 1752-1753
-
-
Emond, M.1
Lepage, G.2
Vanasse, M.3
Pandolfo, M.4
-
11
-
-
0036603021
-
Friedreich ataxia: A paradigm for mitochondrial diseases
-
Puccio H, Koenig M (2002) Friedreich ataxia: A paradigm for mitochondrial diseases. Curr Opin Genet Dev 12:272-277
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 272-277
-
-
Puccio, H.1
Koenig, M.2
-
12
-
-
0035100542
-
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone
-
Lerman-Sagie T, Rustin P, Lev D, Yanoov M, Leshinsky-Silver E, Sagie A, Ben-Gal T, Munnich A (2001) Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. J Inherit Metab Dis 24:28-34
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 28-34
-
-
Lerman-Sagie, T.1
Rustin, P.2
Lev, D.3
Yanoov, M.4
Leshinsky-Silver, E.5
Sagie, A.6
Ben-Gal, T.7
Munnich, A.8
-
13
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
-
Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, Rotig A (1999) Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study. Lancet 354:477-479
-
(1999)
Lancet
, vol.354
, 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
-
14
-
-
0036221156
-
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
-
Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, Rotig A, Rustin P (2002) Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 87:346-349
-
(2002)
Heart
, vol.87
, pp. 346-349
-
-
Hausse, A.O.1
Aggoun, Y.2
Bonnet, D.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
Rustin, P.7
-
15
-
-
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 (2003) Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial. Neurology 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
-
16
-
-
0038187688
-
Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring
-
Buyse G, Mertens L, Di Salvo G, Matthijs I., Weidemann F, Eyskens B, Goossens W, Goemans N, Sutherland GR, Van Hove JL (2003) Idebenone treatment in Friedreich's ataxia: Neurological, cardiac, and biochemical monitoring. Neurology 60:1679-1681
-
(2003)
Neurology
, vol.60
, pp. 1679-1681
-
-
Buyse, G.1
Mertens, L.2
Di Salvo, G.3
Matthijs, I.4
Weidemann, F.5
Eyskens, B.6
Goossens, W.7
Goemans, N.8
Sutherland, G.R.9
Van Hove, J.L.10
-
17
-
-
0037398112
-
The use of antioxidants in Friedreich's ataxia treatment
-
Rustin P (2003) The use of antioxidants in Friedreich's ataxia treatment. Expert Opin Investig Drugs 12:569-575
-
(2003)
Expert Opin Investig Drugs
, vol.12
, pp. 569-575
-
-
Rustin, P.1
-
18
-
-
0036694802
-
Friedreich's ataxia: Idebenone treatment in early stage patients
-
Artuch R, Aracil A, Mas A, Colome C, Rissech M, Monros E, Pineda M (2002) Friedreich's ataxia: Idebenone treatment in early stage patients. Neuropediatrics 33:190-193
-
(2002)
Neuropediatrics
, vol.33
, pp. 190-193
-
-
Artuch, R.1
Aracil, A.2
Mas, A.3
Colome, C.4
Rissech, M.5
Monros, E.6
Pineda, M.7
-
19
-
-
0035020940
-
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
-
Lodi R, Hart PE, Rajagopalan B, Taylor D J, Crilley JG, Bradley JL, Blamire AM, Manners D, Styles P, Schapira AH, Cooper JM (2001) Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol 49:590-596
-
(2001)
Ann Neurol
, vol.49
, 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.10
Cooper, J.M.11
-
20
-
-
0033757325
-
Novel antioxidant agents deriving from molecular combinations of vitamins C and E analogues: 3,4-dihydroxy-5(R)
-
Manfredini S, Vertuani S, Manfredi B, Rossoni G, Calviello G, Palozza P (2000) Novel antioxidant agents deriving from molecular combinations of vitamins C and E analogues: 3,4-dihydroxy-5(R). Bioorg Med Chem 8:2791-2801
-
(2000)
Bioorg Med Chem
, vol.8
, pp. 2791-2801
-
-
Manfredini, S.1
Vertuani, S.2
Manfredi, B.3
Rossoni, G.4
Calviello, G.5
Palozza, P.6
-
21
-
-
0037114896
-
Design, synthesis, and antioxidant activity of FeAOX-6, a novel agent deriving from a molecular combination of the chromanyl and polyisoprenyl moieties
-
Palozza P, Piccioni E, Avanzi L, Vertuani S, Calviello G, Manfredini S (2002) Design, synthesis, and antioxidant activity of FeAOX-6, a novel agent deriving from a molecular combination of the chromanyl and polyisoprenyl moieties. Free Radic Biol Med 33:1724-1735
-
(2002)
Free Radic Biol Med
, vol.33
, pp. 1724-1735
-
-
Palozza, P.1
Piccioni, E.2
Avanzi, L.3
Vertuani, S.4
Calviello, G.5
Manfredini, S.6
-
22
-
-
0018666729
-
Potent and specific inhibition of glutathione synthesis by buthionine sulfoximine (S-n-butyl homocysteine sulfoximine)
-
Griffith OW, Meister A (1979) Potent and specific inhibition of glutathione synthesis by buthionine sulfoximine (S-n-butyl homocysteine sulfoximine). J Biol Chem 254:7558-7560
-
(1979)
J Biol Chem
, vol.254
, pp. 7558-7560
-
-
Griffith, O.W.1
Meister, A.2
-
23
-
-
1842836406
-
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy
-
Jauslin ML, Wirth T, Meier T, Schoumacher F (2002) A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy. Hum Mol Genet 11:3055-3063
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3055-3063
-
-
Jauslin, M.L.1
Wirth, T.2
Meier, T.3
Schoumacher, F.4
-
24
-
-
0033054177
-
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
-
Wong A, Yang J, Cavadini P, Gellera C, Lonnerdal B, Taroni F, Cortopassi G (1999) The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 8:425-430
-
(1999)
Hum Mol Genet
, vol.8
, pp. 425-430
-
-
Wong, A.1
Yang, J.2
Cavadini, P.3
Gellera, C.4
Lonnerdal, B.5
Taroni, F.6
Cortopassi, G.7
-
25
-
-
0034778392
-
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
-
Chantrel-Groussard K, Geromel V, Puccio H, Koenig M, Munnich A, Rotig A, Rustin P (2001) Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Hum Mol Genet 10:2061-2067
-
(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
-
26
-
-
0018348794
-
Direct observation of a free radical interaction between vitamin E and vitamin C
-
Packer JE, Slater TF, Willson RL (1979) Direct observation of a free radical interaction between vitamin E and vitamin C. Nature 278:737-738
-
(1979)
Nature
, vol.278
, pp. 737-738
-
-
Packer, J.E.1
Slater, T.F.2
Willson, R.L.3
-
27
-
-
0043197852
-
Intracellular antioxidants: From chemical to biochemical mechanisms
-
Chaudiere J, Ferrari-Iliou R (1999) Intracellular antioxidants: From chemical to biochemical mechanisms. Food Chem Toxicol 37:949-962
-
(1999)
Food Chem Toxicol
, vol.37
, pp. 949-962
-
-
Chaudiere, J.1
Ferrari-Iliou, R.2
-
28
-
-
0033042677
-
Is ascorbic acid an antioxidant for the plasma membrane?
-
May JM (1999) Is ascorbic acid an antioxidant for the plasma membrane? Faseb J 13:995-1006
-
(1999)
Faseb J
, vol.13
, pp. 995-1006
-
-
May, J.M.1
-
29
-
-
0029133278
-
Cardioselective ammonium, phosphonium, and sulfonium analogues of alpha-tocopherol and ascorbic acid that inhibit in vitro and ex vivo lipid peroxidation and scavenge superoxide radicals
-
Grisar JM, Marciniak G, Bolkenius FN, Verne-Mismer J, Wagner ER (1995) Cardioselective ammonium, phosphonium, and sulfonium analogues of alpha-tocopherol and ascorbic acid that inhibit in vitro and ex vivo lipid peroxidation and scavenge superoxide radicals. J Med Chem 38:2880-2886
-
(1995)
J Med Chem
, vol.38
, pp. 2880-2886
-
-
Grisar, J.M.1
Marciniak, G.2
Bolkenius, F.N.3
Verne-Mismer, J.4
Wagner, E.R.5
-
30
-
-
0032522304
-
Electron transport-linked ubiquinone-dependent recycling of alpha-tocopherol inhibits autooxidation of mitochondrial membranes
-
Lass A, Sohal RS (1998) Electron transport-linked ubiquinone-dependent recycling of alpha-tocopherol inhibits autooxidation of mitochondrial membranes. Arch Biochem Biophys 352:229-236
-
(1998)
Arch Biochem Biophys
, vol.352
, pp. 229-236
-
-
Lass, A.1
Sohal, R.S.2
-
32
-
-
0027397359
-
Autoxidation of lipids and antioxidation by alpha-tocopherol and ubiquinol in homogeneous solution and in aqueous dispersions of lipids: Unrecognized consequences of lipid particle size as exemplified by oxidation of human low density lipoprotein
-
Ingold KU, Bowry VW, Stocker R, Walling C (1993) Autoxidation of lipids and antioxidation by alpha-tocopherol and ubiquinol in homogeneous solution and in aqueous dispersions of lipids: Unrecognized consequences of lipid particle size as exemplified by oxidation of human low density lipoprotein. Proc Natl Acad Sci U S A 90:45-49
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 45-49
-
-
Ingold, K.U.1
Bowry, V.W.2
Stocker, R.3
Walling, C.4
-
33
-
-
0024832264
-
Mitochondrial electron transport-linked tocopheroxyl radical reduction
-
Maguire JJ, Wilson DS, Packer L (1989) Mitochondrial electron transport-linked tocopheroxyl radical reduction. J Biol Chem 264:21462-21465
-
(1989)
J Biol Chem
, vol.264
, pp. 21462-21465
-
-
Maguire, J.J.1
Wilson, D.S.2
Packer, L.3
-
34
-
-
0024563876
-
Inhibition of lipid peroxidation by idebenone in brain mitochondria in the presence of succinate
-
Suno M, Nagaoka A (1989) Inhibition of lipid peroxidation by idebenone in brain mitochondria in the presence of succinate. Arch Gerontol Geriatr 8:291-297
-
(1989)
Arch Gerontol Geriatr
, vol.8
, pp. 291-297
-
-
Suno, M.1
Nagaoka, A.2
-
35
-
-
0022400051
-
Effects of idebenone (CV-2619) and its metabolites on respiratory activity and lipid peroxidation in brain mitochondria from rats and dogs
-
Sugiyama Y, Fujita T, Matsumoto M, Okamoto K, Imada I (1985) Effects of idebenone (CV-2619) and its metabolites on respiratory activity and lipid peroxidation in brain mitochondria from rats and dogs. J Pharmacobiodyn 8:1006-1017
-
(1985)
J Pharmacobiodyn
, vol.8
, pp. 1006-1017
-
-
Sugiyama, Y.1
Fujita, T.2
Matsumoto, M.3
Okamoto, K.4
Imada, I.5
|