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    Science. 1997 Jun 13;276(5319):1709-12.

    Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin.

    Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, Montermini L, Pandolfo M, Kaplan J.

    Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA.

    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.

    PMID: 9180083 [PubMed - indexed for MEDLINE]

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