-
1
-
-
0034642203
-
Oxidative stress in patients with Friedreich ataxia
-
SCHULZ JB, DEHMER T, SCHOLS L et al.: Oxidative stress in patients with Friedreich ataxia. Neurology (2000) 55:1719-1721.
-
(2000)
Neurology
, vol.55
, pp. 1719-1721
-
-
Schulz, J.B.1
Dehmer, T.2
Schols, L.3
-
2
-
-
0034778392
-
Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
-
CHANTREL-GROUSSARD K, GEROMEL V et al.: Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Hum. Mol. Genet. (2001) 10:2061-2067.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2061-2067
-
-
Chantrel-Groussard, K.1
Geromel, V.2
-
3
-
-
0036603021
-
Friedreich ataxia: A paradigm for mitochondrial diseases
-
PUCCIO H, KOENIG M: Friedreich ataxia: a paradigm for mitochondrial diseases. Curr. Opin. Genet. Dev. (2002) 12:272-277.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 272-277
-
-
Puccio, H.1
Koenig, M.2
-
4
-
-
0033000707
-
Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro
-
RUSTIN P, MUNNICH A, ROTIG A: Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro. Biofactors (1999) 9:247-251.
-
(1999)
Biofactors
, vol.9
, pp. 247-251
-
-
Rustin, P.1
Munnich, A.2
Rotig, A.3
-
5
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
DURR A, COSSEE M, AGID Y et al.: Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. (1996) 335:1169-1175.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
-
6
-
-
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: 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
-
7
-
-
0025129284
-
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markets and shows linkage disequilibrium, with D9S15
-
HANAUER A, CHERY M, FUJITA R, DRIESEL AJ, GILGENKRANTZ S, MANDEL JL. The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markets and shows linkage disequilibrium, with D9S15. Am. J. Hum. Genet. (1990) 46:133-137.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 133-137
-
-
Hanauer, A.1
Chery, M.2
Fujita, R.3
Driesel, A.J.4
Gilgenkrantz, S.5
Mandel, J.L.6
-
8
-
-
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) 271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
9
-
-
0037131228
-
Sticky DNA, a long GAA.GAA. TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene
-
VETCHER AA, NAPIERALA M, IYER RR, CHASTAIN PD, GRIFFITH JD, WELLS RD: Sticky DNA, a long GAA.GAA. TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene. J. Biol. Chem. (2002) 277:39217-39227.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 39217-39227
-
-
Vetcher, A.A.1
Napierala, M.2
Iyer, R.R.3
Chastain, P.D.4
Griffith, J.D.5
Wells, R.D.6
-
10
-
-
0035920101
-
Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription
-
SAKAMOTO N, OHSHIMA K, MONTERMINI L, PANDOLFO M, WELLS RD: Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J. Biol. Chem. (2001) 276:27171-27177.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 27171-27177
-
-
Sakamoto, N.1
Ohshima, K.2
Montermini, L.3
Pandolfo, M.4
Wells, R.D.5
-
11
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
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) 6:1771-1780.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
12
-
-
0037101845
-
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/ S proteins
-
MUHLENHOFF U, RICHHARDT N, RISTOW M, KISPAL G, LILL R: The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/ S proteins. Hum. Mol. Genet. (2002) 11:2025-2036.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2025-2036
-
-
Muhlenhoff, U.1
Richhardt, N.2
Ristow, M.3
Kispal, G.4
Lill, R.5
-
13
-
-
0036799372
-
A non-essential function for yeast frataxin in iron-sulfur cluster assembly
-
DUBY G, FOURY F, RAMAZZOTTI A, HERRMANN J, LUTZ T: A non-essential function for yeast frataxin in iron-sulfur cluster assembly. Hum. Mol. Genet. (2002) 11:2635-2643.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2635-2643
-
-
Duby, G.1
Foury, F.2
Ramazzotti, A.3
Herrmann, J.4
Lutz, T.5
-
14
-
-
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) 17:215-217.
-
(1997)
Nat. Genet.
, vol.17
, pp. 215-217
-
-
Rotig, A.1
De Lonlay, P.2
Chretien, D.3
-
15
-
-
0030600134
-
Iron-sulphur clusters as genetic regulatory switches: The bifunctional iron regulatory protein-1
-
PARASKEVA E, HENTZE MW: Iron-sulphur clusters as genetic regulatory switches: the bifunctional iron regulatory protein-1. FEBS Lett. (1996) 389:40-43.
-
(1996)
FEBS Lett.
, vol.389
, pp. 40-43
-
-
Paraskeva, E.1
Hentze, M.W.2
-
16
-
-
0029758487
-
Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress
-
HENTZE MW, KUHN LC: Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress. Proc. Natl. Acad. Sci. USA (1996) 93:8175-8182.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 8175-8182
-
-
Hentze, M.W.1
Kuhn, L.C.2
-
17
-
-
0032167632
-
Activation of iron regulatory protein-1 by oxidative stress in vitro
-
PANTOPOULOS K, HENTZE MW: Activation of iron regulatory protein-1 by oxidative stress in vitro. Proc. Natl. Acad. Sci. USA (1998) 95:10559-10563.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 10559-10563
-
-
Pantopoulos, K.1
Hentze, M.W.2
-
18
-
-
0027948173
-
Translational control by iron-responsive elements
-
HENTZE MW: Translational control by iron-responsive elements. Adv. Exp. Med. Biol. (1994) 356:119-126.
-
(1994)
Adv. Exp. Med. Biol.
, vol.356
, pp. 119-126
-
-
Hentze, M.W.1
-
19
-
-
0242722813
-
Frataxin and mitochondrial iron
-
DM Templeton (Ed.) Marcel Dekker, Inc., New York/Basel
-
RUSTIN P: Frataxin and mitochondrial iron. In: Molecular and Cellular Iron Transport. DM Templeton (Ed.) Marcel Dekker, Inc., New York/Basel (2002):255-272.
-
(2002)
Molecular and Cellular Iron Transport
, pp. 255-272
-
-
Rustin, P.1
-
20
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
BABCOCK M, DE SILVA D, OAKS R 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
De Silva, D.2
Oaks, R.3
-
21
-
-
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
-
22
-
-
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: Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet (1999) 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
-
23
-
-
0036252812
-
Molecular insights into Friedreich's ataxia and antioxidant-based therapies
-
ROTIG A, SIDI D, MUNNICH A, RUSTIN P: Molecular insights into Friedreich's ataxia and antioxidant-based therapies. Trends Mol. Med. (2002) 8:221-224.
-
(2002)
Trends Mol. Med.
, vol.8
, pp. 221-224
-
-
Rotig, A.1
Sidi, D.2
Munnich, A.3
Rustin, P.4
-
24
-
-
0027486590
-
Subcellular distribution of desferrioxamine and hydroxypyridin-4-one chelators in K562 cells affects chelation of intracellular iron pools
-
PORTER KHJ: Subcellular distribution of desferrioxamine and hydroxypyridin-4-one chelators in K562 cells affects chelation of intracellular iron pools. Br. J. Hematol. (1993) 85:393-400.
-
(1993)
Br. J. Hematol.
, vol.85
, pp. 393-400
-
-
Porter, K.H.J.1
-
25
-
-
0036221156
-
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia
-
HAUSSE AO, AGGOUN Y, BONNET D et al.: Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart (2002) 87:346-349.
-
(2002)
Heart
, vol.87
, pp. 346-349
-
-
Hausse, A.O.1
Aggoun, Y.2
Bonnet, D.3
-
26
-
-
0019464939
-
Vitamin C and iron
-
NIENHUIS A: Vitamin C and iron. N. Engl. J. Med. (1981) 304:170-171.
-
(1981)
N. Engl. J. Med.
, vol.304
, pp. 170-171
-
-
Nienhuis, A.1
-
27
-
-
0029042393
-
Biochemical, physiological and medical aspects of ubiquinone function
-
1271
-
ERNSTER L, DALLNER G: Biochemical, physiological and medical aspects of ubiquinone function. Biochim. Biophys. Acta (1995) 1271:195-204.
-
(1995)
Biochim. Biophys. Acta
, pp. 195-204
-
-
Ernster, L.1
Dallner, G.2
-
28
-
-
0036398010
-
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: Rationale and comparative benefits
-
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) 77:21.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 21
-
-
Geromel, V.1
Darin, N.2
Chretien, D.3
-
29
-
-
0034730011
-
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
-
ROTIG A, APPELKVIST EL, GEROMEL V et al.: Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet (2000) 356:391-395.
-
(2000)
Lancet
, vol.356
, pp. 391-395
-
-
Rotig, A.1
Appelkvist, E.L.2
Geromel, V.3
-
30
-
-
0037235890
-
Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia
-
BUNSE M, BIT-AVRAGIM N, RIEFFLIN A et al.: Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia. Ann. Neurol. (2003) 53:121-123.
-
(2003)
Ann. Neurol.
, vol.53
, pp. 121-123
-
-
Bunse, M.1
Bit-Avragim, N.2
Riefflin, A.3
-
31
-
-
0035968097
-
Idebenone in patients with Friedreich ataxia
-
SCHOLS L, VORGERD M, SCHILLINGS M, SKIPKA G, ZANGE J: Idebenone in patients with Friedreich ataxia. Neurosci. Lett. (2001) 306:169-172.
-
(2001)
Neurosci. Lett.
, vol.306
, pp. 169-172
-
-
Schols, L.1
Vorgerd, M.2
Schillings, M.3
Skipka, G.4
Zange, J.5
-
32
-
-
0035887745
-
Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice
-
SORENSEN L, EKSTRAND M, SILVA JP et al.: late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice. J. Neurosci. (2001) 21:8082-8090.
-
(2001)
J. Neurosci.
, vol.21
, pp. 8082-8090
-
-
Sorensen, L.1
Ekstrand, M.2
Silva, J.P.3
-
33
-
-
0036694802
-
Friedreich's ataxia: Idebenone treatment in early stage patients
-
ARTUCH R, ARACIL A, MAS A 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
Aracil, A.2
Mas, A.3
-
34
-
-
0035020940
-
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
-
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) 49:590-596.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 590-596
-
-
Lodi, R.1
Hart, P.E.2
Rajagopalan, B.3
|