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Science 13 June 1997:
Vol. 276. no. 5319, pp. 1709 - 1712
DOI: 10.1126/science.276.5319.1709
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Reports

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Michael Babcock, Deepika de Silva, Robert Oaks, Sandra Davis-Kaplan, Sarn Jiralerspong, Laura Montermini, Massimo Pandolfo, Jerry Kaplan *

The gene responsible for Friedreich's ataxia, a disease characterized by neurodegeneration and cardiomyopathy, has recently been cloned and its product designated frataxin. A gene in Saccharomyces cerevisiae was characterized whose predicted protein product has high sequence similarity to the human frataxin protein. The yeast gene (yeast frataxin homolog, YFH1) encodes a mitochondrial protein involved in iron homeostasis and respiratory function. Human frataxin also was shown to be a mitochondrial protein. Characterizing the mechanism by which YFH1 regulates iron homeostasis in yeast may help to define the pathologic process leading to cell damage in Friedreich's ataxia.

M. Babcock, D. de Silva, R. Oaks, S. Davis-Kaplan, J. Kaplan, Division of Immunology and Cell Biology, Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA.
S. Jiralerspong and L. Montermini, Centre de Recherche Louis-Charles Simard, Montréal, Québec, H2L4M1 Canada.
M. Pandolfo, Department of Medicine, Université de Montréal, Montréal, Québec, H2L4M1 Canada, and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, H3A2B4 Canada.
*   To whom correspondence should be addressed.

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Frataxin activates mitochondrial energy conversion and oxidative phosphorylation.
M. Ristow, M. F. Pfister, A. J. Yee, M. Schubert, L. Michael, C.-Y. Zhang, K. Ueki, M. D. Michael II, B. B. Lowell, and C. R. Kahn (2000)
PNAS
   Abstract »    Full Text »
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.
P. Cavadini, C. Gellera, P. I. Patel, and G. Isaya (2000)
Hum. Mol. Genet. 9, 2523-2530
   Abstract »    Full Text »    PDF »
Echocardiographic Characterization of Cardiomyopathy in Friedreich's Ataxia With Tissue Doppler Echocardiographically Derived Myocardial Velocity Gradients.
D. P. Dutka, J. E. Donnelly, P. Palka, A. Lange, D. J. R. Nunez, and P. Nihoyannopoulos (2000)
Circulation 102, 1276-1282
   Abstract »    Full Text »    PDF »
Early onset of Friedreich's ataxia in a compound heterozygote.
M. C. McGovern, M. Stewart, P. J Morrison, D. Webb, and S. Hawkins (2000)
Arch. Dis. Child. 83, 74-75
   Abstract »    Full Text »
Maintenance and Integrity of the Mitochondrial Genome: a Plethora of Nuclear Genes in the Budding Yeast.
V. Contamine and M. Picard (2000)
Microbiol. Mol. Biol. Rev. 64, 281-315
   Abstract »    Full Text »    PDF »
Role of Saccharomyces cerevisiae ISA1 and ISA2 in Iron Homeostasis.
L. T. Jensen and V. C. Culotta (2000)
Mol. Cell. Biol. 20, 3918-3927
   Abstract »    Full Text »
Role of the Mitochondrial Hsp70s, Ssc1 and Ssq1, in the Maturation of Yfh1.
C. Voisine, B. Schilke, M. Ohlson, H. Beinert, J. Marszalek, and E. A. Craig (2000)
Mol. Cell. Biol. 20, 3677-3684
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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation.
M. Cossee, H. Puccio, A. Gansmuller, H. Koutnikova, A. Dierich, M. LeMeur, K. Fischbeck, P. Dolle, and M. Koenig (2000)
Hum. Mol. Genet. 9, 1219-1226
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Yeast Lacking Cu-Zn Superoxide Dismutase Show Altered Iron Homeostasis. ROLE OF OXIDATIVE STRESS IN IRON METABOLISM.
J. M. De Freitas, A. Liba, R. Meneghini, J. S. Valentine, and E. B. Gralla (2000)
J. Biol. Chem. 275, 11645-11649
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A role for Caenorhabditis elegans in understanding the function and interactions of human disease genes.
E. Culetto and D. B. Sattelle (2000)
Hum. Mol. Genet. 9, 869-877
   Abstract »    Full Text »    PDF »
Recent advances in the molecular pathogenesis of Friedreich ataxia.
H. Puccio (2000)
Hum. Mol. Genet. 9, 887-892
   Abstract »    Full Text »    PDF »
Fourteen and counting: unraveling trinucleotide repeat diseases.
C. J. Cummings and H. Y. Zoghbi (2000)
Hum. Mol. Genet. 9, 909-916
   Abstract »    Full Text »    PDF »


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