Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes

@article{Fu2003MutationAO,
  title={Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes},
  author={Xiangdong Fu and Piero Rinaldo and Si Houn Hahn and Hiroko Kodama and Seymour Packman},
  journal={Journal of Inherited Metabolic Disease},
  year={2003},
  volume={26},
  pages={55-66}
}
Summary: The trace metal copper is an essential cofactor for a number of biological processes, including mitochondrial oxidative phosphorylation, free-radical eradication, neurotransmitter synthesis and maturation, and iron metabolism. Consequently, copper transport at the cell surface and the delivery of copper to intracellular proteins are critical events in normal cellular homeostasis. Four genes have been reported to influence the cellular uptake and the delivery of copper to specific cell… CONTINUE READING
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