Article
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
PloS one - 1 Jan 2012
Wang Jing-Fang, Chou Kuo-Chen
Abstract excerpt
Human mitochondrial ornithine transporter-1 is reported in coupling with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, which is a rare autosomal recessive disorder. For in-depth understanding of the molecular mechanism of the disease, it is crucially important to acquire the 3D structure of human mitochondrial ornithine transporter-1. Since no such structure is available in the current...
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