Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease
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DOI: 10.1038/s41598-017-00618-6
Abstract: 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… read more here.
Keywords: atp7a; tgn; copper; atp7a missense ... See more keywords