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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Detalles Bibliográficos
Autores principales: Skjørringe, Tina, Amstrup Pedersen, Per, Salling Thorborg, Sidsel, Nissen, Poul, Gourdon, Pontus, Birk Møller, Lisbeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
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

Internet

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

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