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Cízková A Stránecký V Mayr JA Tesarová M Havlícková V Paul J Ivánek R Kuss AW Hansíková H Kaplanová V Vrbacký M Hartmannová H Nosková L Honzík T Drahota Z Magner M Hejzlarová K Sperl W Zeman J Houstek J Kmoch S 《Nature genetics》2008,40(11):1288-1290
We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes. 相似文献
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