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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...
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| Veröffentlicht in: | Sci Rep |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group UK
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5428812/ https://ncbi.nlm.nih.gov/pubmed/28389643 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-00618-6 |
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