Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1. Skre, H. Friedreich's ataxia in western Norway. Clin. Genet. 7, 287–298 (1975).

   Article  CAS  Google Scholar 

2. Romeo, G. et al. Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am. J. Hum. Genet. 35, 523–529 (1983).

   CAS  PubMed  PubMed Central  Google Scholar 

3. Harding, A. 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 104, 589–620 (1981).

   Article  CAS  Google Scholar 

4. Dürr, A. et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. 335, 1169–1175 (1996).

   Article  Google Scholar 

5. Oppenheimer, D.R. & Esiri, M.M. Disease of the basal ganglia, cerebellum and motor neurons. in Greenfield's Neuropathology, 5th ed. (eds Adams, J.H., Corselli, J.A.N. SDuchen, LW.) 1015–1018 (Arnold, London, 1992).

   Google Scholar 

6. Campuzano, V. et al. Friedreich ataxia, an autosomal recessive disease caused by intronicGAA triplet repeat expansion. Science 271, 1423–1427 (1996).

   Article  CAS  Google Scholar 

7. Cossée, M. et al. Frataxin fracas. Nature Genet. 15, 337 (1997).

   Article  Google Scholar 

8. Gibson, T.J., Koonin, E.V., Musco, G., Pastore, A. & Bork, P. Friedreich's ataxia protein: bacterial homologs point to mitochondrial dysfunction. Trends Neurosci. 19, 465–468 (1996).

   Article  CAS  Google Scholar 

9. Carvajal, J.J. et al. The Friedreich's ataxia gene encodes a novel phosphatidyl inositol-4-phosphate 5-kinase. Nature Genet. 14, 157–162 (1996).

   Article  CAS  Google Scholar 

10. Carvajal, J.J. et al. Friedreich's ataxia: a defect in signal transduction? Hum. Mol. Genet. 4, 1411–1419 (1995).

    Article  CAS  Google Scholar 

11. Nakai, K. & Kanehisa, M. A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics 14, 897–911 (1992).

    Article  CAS  Google Scholar 

12. Goffeau, A. et al. Life with 6000 genes. Science 274, 546–567 (1996).

    Article  CAS  Google Scholar 

13. Stryer, L. Biochemistry (W. H. Freeman & Co., New York, 1988).

14. Wallace, D.C., Shoffner, J.M., Trounce, I. & Brown, M.D. Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim. Biophys. Acta 1271, 141–151 (1995).

    Article  Google Scholar 

15. Schatz, G. & Dobberstein, B. Common principles of protein translocation acrossmembranes. Science 271, 1519–1526 (1996).

    Article  CAS  Google Scholar 

16. Halliwell, B. Free radicals, antioxidants, and human disease: curiosity, cause or consequence? Lancet 344, 721–724 (1994).

    Article  CAS  Google Scholar 

17. Rosen, D.R. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59–62 (1993).

    Article  CAS  Google Scholar 

18. Wong, P.C. et al. An adverse property of familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14, 1105–1116 (1995).

    Article  CAS  Google Scholar 

19. Ouahchi, K. et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the otocopherol transfer protein. Nature Genet. 9, 141–145 (1995).

    Article  CAS  Google Scholar 

20. Babcock, M. et al. Regulation of mitochondrial iron accumulation by Yfh lp, a putative homolog of frataxin. Science 276, 1709–1712 (1997).

    Article  CAS  Google Scholar 

21. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular donning: A Laboratory Manual (Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, 1989).

    Google Scholar 

22. Krowczynska, A.M., Coutts, M., Makrides, S. & Brawerman, G. The mouse homologue of the human acidic ribosomal phosphoprotein PO: a highly conserved polypeptide that is under translational control. Nucleic Acids Res. 17, 6408 (1989).

    Article  CAS  Google Scholar 

23. Décimo, D., Georges-Labousse, E. & Dollé, P. in Gene Probes 2, a Practical Approach (eds Hames, B.D. & Higgins, S.J.) 183–210 (IRL Press, Oxford, 1995).

    Google Scholar 

24. Schreiber, V., de Murcia, G. & Murcia, J.M. An eucaryotic expression vector for the study of nuclear localization signals. Gene 150, 411–412 (1996).

    Article  Google Scholar 

25. Gorman, C.M., Lane, D.P. & Rigby, P.W. High efficiency gene transfer into mammalian cells. Philos. Trans. R. Soc. Lond. Biol. Sci. 307, 343–346 (1984).

    Article  CAS  Google Scholar 

26. Rothstein, R., argeting, disruption, replacement, and allele rescue: integrative DNA transformation in yeast. Methods Enzymol. 194, 281–301 (1991).

    Article  CAS  Google Scholar 

27. Wach, A., Brachat, A., Pohlman, R. & Philipsen, P. New heterologous modules for classical or PCR-based gene disruptions in Saccharomyces cerevisiae. Yeast 10, 1793–1808 (1994).

    Article  CAS  Google Scholar 

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