Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

Human Molecular Genetics

Volumn 10, Issue 19, 2001, Pages 2061-2067

  Chantrel Groussard, Karine ^a   Geromel, Vanna ^a   Puccio, Hélène ^b   Koenig, Michel ^b   Munnich, Arnold ^a   Rötig, Agnès ^a   Rustin, Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIOXIDANT; FRATAXIN; IRON SULFUR PROTEIN; SUPEROXIDE DISMUTASE;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; FRIEDREICH ATAXIA; HEART; HUMAN; HUMAN CELL; IRON OVERLOAD; KNOCKOUT MOUSE; MACHINE; MITOCHONDRION; MOUSE; NONHUMAN; OXIDATIVE STRESS; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ANIMALIA; ATAXIA;

EID: 0034778392     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.19.2061     Document Type: Article

References (27)

1. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
2. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
3. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
4. Frataxin expansion causes aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia
5. Mouse models for Friedrich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
6. Pathology of the heart in Friedreich's ataxia: Review of the literature and report of one case
7. Increased iron in the dentate nucleus of patients with Friedrich's ataxia
8. Superoxide radical and superoxide dismutases
9. High protonic potential actuates a mechanism of production of reactive oxygen species in mitochondria
10. Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA
11. Yeast lacking Cu-Zn superoxide dismutase show altered iron homeostasis. Role of oxidative stress in iron metabolism
12. Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress
13. Iron-dependent self-assembly of recombinant yeast frataxin: Implications for Friedreich ataxia
14. A human mitochondrial ferritin encoded by an intronless gene
15. Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin deficient mutant
16. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
17. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
18. Mouse models of mitochondrial disease, oxidative stress, and senescence
19. Inhibition of copper-zinc superoxide dismutase induces cell growth hypertrophic phenotype, and apoptosis in neonatal rat cardiac myocytes in vitro
20. Increased levels of plasma malondialdehyde in Friedreich ataxia
21. Oxidative stress in patients with Friedreich ataxia
22. Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
23. Effect of idebenone in Friedreich's ataxia: A preliminary study
24. Expression of respiratory chain deficiencies in human cultured cells
25. Simplified methods for the estimation of iron in mitochondria and submitochondrial fractions
26. Biochemical and molecular investigations in respiratory chain deficiencies
27. Involvement of the superoxide anion radical in the autoxidation of pyrogallol and a convenient assay for superoxide dismutase