Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease
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 and the plasma membrane at higher c...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2017-04-01
|
| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-017-00618-6 |