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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Sci Rep
Hauptverfasser: Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2017
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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