Molecular insights into Friedreich's ataxia and antioxidant-based therapies

Trends in Molecular Medicine

Volumn 8, Issue 5, 2002, Pages 221-224

  Rötig, Agnès ^a   Sidi, Daniel ^a   Munnich, Arnold ^a   Rustin, Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; ANTIOXIDANT; FRATAXIN; IDEBENONE; UBIQUINONE;

ANIMAL EXPERIMENT; ANIMAL MODEL; FRIEDREICH ATAXIA; GENETIC TRANSCRIPTION; HUMAN; MOLECULAR BIOLOGY; MOUSE; NONHUMAN; PATHOGENESIS; PROTEIN ANALYSIS; PROTEIN FUNCTION; REVIEW;

ANIMALS; ANTIOXIDANTS; BENZOQUINONES; CARRIER PROTEINS; FRIEDREICH ATAXIA; HUMANS; IRON; IRON-BINDING PROTEINS; MICE;

ANIMALIA; ATAXIA;

EID: 0036252812     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1471-4914(02)02330-4     Document Type: Review

References (31)

1. Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and interfamilial clustering of clinical features
2. Mapping of mutation causing Friedreich's ataxia to human chromosome 9
3. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
4. Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription
5. Regulation of mitcohondrial iron accumulation by Yfh1p, a putative homolog of frataxin
6. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
7. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
8. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
9. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
10. Iron-dependent self-assembly of recombinant yeast frataxin: Implications for Friedreich ataxia
11. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia
12. A human mitochondrial ferritin encoded by an intronless gene
13. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
14. The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly
15. The mitochondrial protein Ssq1 and Jac1 are required for the assembly of iron sulfur clusters in mitochondria
16. Disabled early recruitment of antioxidant defenses in Friedreich's ataxia
17. Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells
18. Frataxin activates mitochondrial energy conversion and oxidative phosphorylation
19. YFH1-mediated iron homeostasis is independent of mitochondrial respiration
20. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
21. Friedreich ataxia: An overview
22. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
23. Vitamin C and iron
24. Chemistry, toxicology, pharmacology and pharmacokinetics of idebenone: A review
25. Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro
26. Idebenone and reduced cardiac hypertrophy in patients with Friedreich's ataxia
27. Idebenone in patients with Friedreich ataxia
28. Preliminary results of a randomized placebo-controlled trial on the efficacy of idebenone in Friedreich ataxia
29. Friedreich ataxia: Idebenone treatment in pediatric patients
30. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
31. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia