Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Biological Transport
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Carrier Proteins / metabolism
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Cell Membrane / metabolism
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Ceruloplasmin*
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Cytosol / metabolism
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Frataxin
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Friedreich Ataxia / metabolism
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Fungal Proteins / genetics
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Fungal Proteins / metabolism*
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Genes, Fungal
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Genetic Complementation Test
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Homeostasis
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Humans
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Iron / metabolism*
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Iron-Binding Proteins*
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Membrane Transport Proteins / metabolism
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Mitochondria / metabolism*
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Oxidative Stress
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Oxidoreductases / metabolism
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Phosphotransferases (Alcohol Group Acceptor) / metabolism
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Recombinant Fusion Proteins / metabolism
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Saccharomyces cerevisiae / genetics
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Saccharomyces cerevisiae / growth & development
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Saccharomyces cerevisiae / metabolism*
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Saccharomyces cerevisiae Proteins*
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Transformation, Genetic
Substances
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Carrier Proteins
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FTR1 protein, S cerevisiae
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Fungal Proteins
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Iron-Binding Proteins
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Membrane Transport Proteins
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Recombinant Fusion Proteins
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Saccharomyces cerevisiae Proteins
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Iron
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Oxidoreductases
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Ceruloplasmin
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FET3 protein, S cerevisiae
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Phosphotransferases (Alcohol Group Acceptor)