Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

@inproceedings{Skjrringe2017CharacterizationOA,
  title={Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease},
  author={Tina Skj\orringe and Per Amstrup Pedersen and Sidsel Salling Thorborg and Poul Nissen and Pontus Gourdon and Lisbeth Birk M\oller},
  booktitle={Scientific Reports},
  year={2017}
}
Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compartments and the plasma membrane at higher concentrations. Here we have analyzed the effect of 36 ATP7A missense mutations identified in phenotypically different MD patients. Nine mutations identified in patients with severe MD, virtually eliminated… CONTINUE READING

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