Frataxin and frataxin deficiency in Friedreich's ataxia

Journal of the Neurological Sciences

Volumn 207, Issue 1-2, 2003, Pages 103-105

  Wilson, Robert B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FERROUS ION; FRATAXIN; IRON BINDING PROTEIN; IRON SULFUR PROTEIN; MALONALDEHYDE; MITOCHONDRIAL DNA;

CHEMICAL ANALYSIS; CHROMOSOME MUTATION; CONFERENCE PAPER; DENTATE NUCLEUS; ENCEPHALOMYELITIS; ENZYME DEFICIENCY; FRIEDREICH ATAXIA; GENE DELETION; HUMAN; LETHALITY; LIPID PEROXIDATION; MISSENSE MUTATION; MITOCHONDRION; MOUSE MUTANT; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATIVE STRESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; PROTEIN INDUCTION; SURVIVAL; SYMPTOMATOLOGY; YEAST;

ANIMALS; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS;

EID: 12244303650     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00432-X     Document Type: Conference Paper

References (30)

1. Campuzano V., Montermini L., Molto M.D.et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 271:1996;1423-1427.
2. Ohshima K., Montermini L., Wells R.D., Pandolfo M. Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem. 273:1998;14588-14595.
3. Cossée M., Puccio H., Gansmuller A.et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum. Mol. Genet. 9:2000;1219-1226.
4. Patel P.I., Isaya G. Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am. J. Hum. Genet. 69:2001;15-24.
5. Campuzano V., Montermini L., Lutz Y.et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet. 6:1997;1771-1780.
6. Koutnikova H., Campuzano V., Foury F.et al. Studies of human, mouse, and yeast homologues indicate a mitochondrial function for frataxin. Nat. Genet. 16:1997;345-351.
7. Cavadini P., Gellera C., Patel P.I., Isaya G. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Hum. Mol. Genet. 9:2000;2523-2530.
8. Wilson R.B., Roof D.M. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat. Genet. 16:1997;352-357.
9. Babcock M., de Silva D., Oaks R.et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science. 276:1997;1709-1712.
10. Radisky D.C., Babcock M.C., Kaplan J.K. The yeast frataxin homologue mediates mitochondrial iron efflux: evidence for a mitochondrial iron cycle. J. Biol. Chem. 274:1999;4497-4499.
11. Foury F. Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. FEBS Lett. 456:1999;281-284.
12. Foury F., Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 411:1997;373-377.
13. LaMarche J.B., Coté M., Lemieux B. The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can. J. Neurol. Sci. 7:1980;389-396.
14. Delatycki M.B., Camakaris J., Brooks H.et al. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia. Ann. Neurol. 45:1999;673-675.
15. Wong A., Yang J., Cavadini P.et al. 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. 8:1999;425-430.
16. Waldvogel D., van Gelderen P., Hallett M. Increased iron in the dentate nucleus of patients with Friedreich's ataxia. Ann. Neurol. 46:1999;123-125.
17. Koeppen A.H. Neuropathology of the inherited ataxias. Manto M.-U., Pandolfo M. The cerebellum and its disorders. 2002;387-405 Cambridge Univ. Press, Cambridge.
18. Bradley J.L., Blake J.C., Chamberlain S.et al. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum. Mol. Genet. 9:2000;275-282.
19. Rötig A., de Lonlay P., Chretien D.et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia. Nat. Genet. 17:1997;215-217.
20. Lodi R., Cooper J.M., Bradley J.L.et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc. Nat. Acad. Sci. U. S. A. 96:1999;11492-11495.
21. Emond M., Lepage G., Vanasse M., Pandolfo M. Increased levels of plasma malondialdehyde in Friedreich ataxia. [see comments] Neurology. 55:2000;1752-1753.
22. Schulz J.B., Dehmer T., Schöls L.et al. Oxidative stress in patients with Friedreich ataxia. Neurology. 55:2000;1719-1721.
23. Adamec J., Rusnak F., Owen W.G.et al. Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich Ataxia. Am. J. Hum. Genet. 67:2000;549-562.
24. Cavadini P., O'Neill H.A., Benada O., Isaya G. Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia. Hum. Mol. Genet. 11:2002;217-227.
25. Gakh O., Adamec J., Gacy A.M.et al. Physical evidence that yeast frataxin is an iron storage protein. Biochemistry. 41:2002;6798-6804.
26. Puccio H., Simon D., Cossée M.et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat. Genet. 27:2001;181-186.
27. Lill R., Kaut A., Lange H.et al. The essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins. Biol. Chem. 380:1999;1157-1166.
28. Mühlenhoff U., Richhardt N., Ristow M.et al. The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum. Mol. Genet. 11:2002;2025-2036.
29. Hausse A.O., Aggoun Y., Bonnet D.et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart. 87:2002;346-349.
30. Rustin P., von Kleist-Retzow J.C., Chantrel-Groussard K.et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet. 354:1999;477-479.