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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease
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 concentrat...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5428812/ https://www.ncbi.nlm.nih.gov/pubmed/28389643 http://dx.doi.org/10.1038/s41598-017-00618-6 |