Publication Date:
1997-06-13
Description:
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.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Babcock, M -- de Silva, D -- Oaks, R -- Davis-Kaplan, S -- Jiralerspong, S -- Montermini, L -- Pandolfo, M -- Kaplan, J -- DK30534/DK/NIDDK NIH HHS/ -- DK49219/DK/NIDDK NIH HHS/ -- NS34192/NS/NINDS NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1997 Jun 13;276(5319):1709-12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9180083" target="_blank"〉PubMed〈/a〉
Keywords:
Biological Transport
;
Carrier Proteins/metabolism
;
Cell Membrane/metabolism
;
*Ceruloplasmin
;
Cytosol/metabolism
;
Friedreich Ataxia/metabolism
;
Fungal Proteins/genetics/*metabolism
;
Genes, Fungal
;
Genetic Complementation Test
;
Homeostasis
;
Humans
;
Iron/*metabolism
;
*Iron-Binding Proteins
;
Membrane Transport Proteins/metabolism
;
Mitochondria/*metabolism
;
Oxidative Stress
;
Oxidoreductases/metabolism
;
Phosphotransferases (Alcohol Group Acceptor)/metabolism
;
Recombinant Fusion Proteins/metabolism
;
Saccharomyces cerevisiae/genetics/growth & development/*metabolism
;
*Saccharomyces cerevisiae Proteins
;
Transformation, Genetic
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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