Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (66)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Chantrel-Groussard, K.
Right arrow Articles by Rustin, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Chantrel-Groussard, K.
Right arrow Articles by Rustin, P.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, 2001, Vol. 10, No. 19 2061-2067
© 2001 Oxford University Press

Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia

Karine Chantrel-Groussard, Vanna Geromel, Hélène Puccio1, Michel Koenig1, Arnold Munnich, Agnès Rötig and Pierre Rustin+

Unité de Recherches sur les Handicaps Génétiques de l’Enfant, INSERM U393, Tour Lavoisier, Hôpital Necker-Enfants-Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France and 1Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM, CNRS, 1 rue Laurent Fries, BP 163, 67404 Illkirch, France

Friedreich’s ataxia (FRDA) results from a generalized deficiency of mitochondrial iron–sulfur protein activity ascribed to mitochondrial iron overload. However, iron overload appears to be a late event in the disease. Here we show that neither superoxide dismutases nor the import iron machinery was induced by an endogenous oxidative stress in FRDA patients’ fibroblasts in contrast to control cells. Superoxide dismutase activity was not induced in the heart of conditional frataxin-KO mice either. This suggests that continuous oxidative damage to iron–ulfur clusters, resulting from hampered superoxide dismutase signaling, is causative of the mitochondrial deficiency and long term mitochondrial iron overload occurring in FRDA.

+ To whom correspondence should be addressed. Tel: +33 1 44 49 51 51; Fax: +33 1 47 34 85 14; Email: rustin@necker.fr


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
S. Schmucker, M. Argentini, N. Carelle-Calmels, A. Martelli, and H. Puccio
The in vivo mitochondrial two-step maturation of human frataxin
Hum. Mol. Genet., November 15, 2008; 17(22): 3521 - 3531.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
M. Pandolfo
Friedreich Ataxia
Arch Neurol, October 1, 2008; 65(10): 1296 - 1303.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
I. Condo, N. Ventura, F. Malisan, A. Rufini, B. Tomassini, and R. Testi
In vivo maturation of human frataxin
Hum. Mol. Genet., July 1, 2007; 16(13): 1534 - 1540.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
P. Ribai, F. Pousset, M.-L. Tanguy, S. Rivaud-Pechoux, I. Le Ber, F. Gasparini, P. Charles, A.-S. Beraud, M. Schmitt, M. Koenig, et al.
Neurological, Cardiological, and Oculomotor Progression in 104 Patients With Friedreich Ataxia During Long-term Follow-up
Arch Neurol, April 1, 2007; 64(4): 558 - 564.
[Abstract] [Full Text] [PDF]

Home page
 FASEB J.Home page
J. V. Llorens, J. A. Navarro, M. J. Martinez-Sebastian, M. K. Baylies, S. Schneuwly, J. A. Botella, and M. D. Molto
Causative role of oxidative stress in a Drosophila model of Friedreich ataxia
FASEB J, February 1, 2007; 21(2): 333 - 344.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Cell Physiol.Home page
J.-J. Briere, J. Favier, A.-P. Gimenez-Roqueplo, and P. Rustin
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation
Am J Physiol Cell Physiol, December 1, 2006; 291(6): C1114 - C1120.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
I. Condo, N. Ventura, F. Malisan, B. Tomassini, and R. Testi
A Pool of Extramitochondrial Frataxin That Promotes Cell Survival
J. Biol. Chem., June 16, 2006; 281(24): 16750 - 16756.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
V. Irazusta, E. Cabiscol, G. Reverter-Branchat, J. Ros, and J. Tamarit
Manganese Is the Link between Frataxin and Iron-Sulfur Deficiency in the Yeast Model of Friedreich Ataxia
J. Biol. Chem., May 5, 2006; 281(18): 12227 - 12232.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
T. J. Schulz, R. Thierbach, A. Voigt, G. Drewes, B. Mietzner, P. Steinberg, A. F. H. Pfeiffer, and M. Ristow
Induction of Oxidative Metabolism by Mitochondrial Frataxin Inhibits Cancer Growth: OTTO WARBURG REVISITED
J. Biol. Chem., January 13, 2006; 281(2): 977 - 981.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
R. Thierbach, T. J. Schulz, F. Isken, A. Voigt, B. Mietzner, G. Drewes, J.-C. von Kleist-Retzow, R. J. Wiesner, M. A. Magnuson, H. Puccio, et al.
Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice
Hum. Mol. Genet., December 15, 2005; 14(24): 3857 - 3864.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
B. Sturm, U. Bistrich, M. Schranzhofer, J. P. Sarsero, U. Rauen, B. Scheiber-Mojdehkar, H. de Groot, P. Ioannou, and F. Petrat
Friedreich's Ataxia, No Changes in Mitochondrial Labile Iron in Human Lymphoblasts and Fibroblasts: A DECREASE IN ANTIOXIDATIVE CAPACITY?
J. Biol. Chem., February 25, 2005; 280(8): 6701 - 6708.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
H. Seznec, D. Simon, C. Bouton, L. Reutenauer, A. Hertzog, P. Golik, V. Procaccio, M. Patel, J.-C. Drapier, M. Koenig, et al.
Friedreich ataxia: the oxidative stress paradox
Hum. Mol. Genet., February 15, 2005; 14(4): 463 - 474.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
C. M. Everett and N. W. Wood
Trinucleotide repeats and neurodegenerative disease
Brain, November 1, 2004; 127(11): 2385 - 2405.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
H. Seznec, D. Simon, L. Monassier, P. Criqui-Filipe, A. Gansmuller, P. Rustin, M. Koenig, and H. Puccio
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia
Hum. Mol. Genet., May 15, 2004; 13(10): 1017 - 1024.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Mattiazzi, C. Vijayvergiya, C. D. Gajewski, D. C. DeVivo, G. Lenaz, M. Wiedmann, and G. Manfredi
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants
Hum. Mol. Genet., April 15, 2004; 13(8): 869 - 879.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
D. Simon, H. Seznec, A. Gansmuller, N. Carelle, P. Weber, D. Metzger, P. Rustin, M. Koenig, and H. Puccio
Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia
J. Neurosci., February 25, 2004; 24(8): 1987 - 1995.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
G. Tan, E. Napoli, F. Taroni, and G. Cortopassi
Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells
Hum. Mol. Genet., July 15, 2003; 12(14): 1699 - 1711.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
O. S. Chen, S. Hemenway, and J. Kaplan
Genetic analysis of iron citrate toxicity in yeast: Implications for mammalian iron homeostasis
PNAS, December 24, 2002; 99(26): 16922 - 16927.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. L. Jauslin, T. Wirth, T. Meier, and F. Schoumacher
A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy
Hum. Mol. Genet., November 15, 2002; 11(24): 3055 - 3063.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L. Pianese, L. Busino, I. De Biase, T. de Cristofaro, M. S. Lo Casale, P. Giuliano, A. Monticelli, M. Turano, C. Criscuolo, A. Filla, et al.
Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells
Hum. Mol. Genet., November 1, 2002; 11(23): 2989 - 2996.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. Park, O. Gakh, S. M. Mooney, and G. Isaya
The Ferroxidase Activity of Yeast Frataxin
J. Biol. Chem., October 4, 2002; 277(41): 38589 - 38595.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
G. Duby, F. Foury, A. Ramazzotti, J. Herrmann, and T. Lutz
A non-essential function for yeast frataxin in iron-sulfur cluster assembly
Hum. Mol. Genet., October 2, 2002; 11(21): 2635 - 2643.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
U. Muhlenhoff, N. Richhardt, M. Ristow, G. Kispal, and R. Lill
The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins
Hum. Mol. Genet., August 15, 2002; 11(17): 2025 - 2036.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
G. Karthikeyan, L. K. Lewis, and M. A. Resnick
The mitochondrial protein frataxin prevents nuclear damage
Hum. Mol. Genet., May 16, 2002; 11(11): 1351 - 1362.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
S. A. Shoichet, A. T. Baumer, D. Stamenkovic, H. Sauer, A. F. H. Pfeiffer, C. R. Kahn, D. Muller-Wieland, C. Richter, and M. Ristow
Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro
Hum. Mol. Genet., April 1, 2002; 11(7): 815 - 821.
[Abstract] [Full Text] [PDF]

Home page
 HeartHome page
D Lang
Cardiac hypertrophy and oxidative stress: a leap of faith or stark reality?
Heart, April 1, 2002; 87(4): 316 - 317.
[Full Text] [PDF]

Home page
 Hum Mol GenetHome page
P. Cavadini, H. A. O'Neill, O. Benada, and G. Isaya
Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
Hum. Mol. Genet., February 1, 2002; 11(3): 217 - 227.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.