par Babcock, M;de Silva, D;Oaks, R;Davis-Kaplan, S;Jiralerspong, S;Montermini, L;Pandolfo, Massimo ;Kaplan, Jerry
Référence Science, 276, 5319, page (1709-1712)
Publication Publié, 1997-06
Référence Science, 276, 5319, page (1709-1712)
Publication Publié, 1997-06
Article révisé par les pairs
Résumé : | 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. |