نتایج جستجو برای: mngie

تعداد نتایج: 83  

Journal: :Human molecular genetics 2009
Luis C López Hasan O Akman Angeles García-Cazorla Beatriz Dorado Ramón Martí Ichizo Nishino Saba Tadesse Giuseppe Pizzorno Dikoma Shungu Eduardo Bonilla Kurenai Tanji Michio Hirano

Replication and repair of DNA require equilibrated pools of deoxynucleoside triphosphate precursors. This concept has been proven by in vitro studies over many years, but in vivo models are required to demonstrate its relevance to multicellular organisms and to human diseases. Accordingly, we have generated thymidine phosphorylase (TP) and uridine phosphorylase (UP) double knockout (TP(-/-)UP(-...

2010
S. Di Mauro

In this brief review, I have highlighted recent advances in several areas of mitochondrial medicine, including mtDNA-related diseases, mendelian mitochondrial encephalomyopathies, and therapy. The pathogenic mechanisms of mtDNA mutations, especially those affecting mitochondrial protein synthesis, are still largely unknown. The pathogenicity of homoplasmic mtDNA mutations has become evident but...

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