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Article

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.

Scientific reports - 7 Apr 2017

Skjørringe Tina, Amstrup Pedersen Per, Salling Thorborg Sidsel, Nissen Poul, Gourdon Pontus, Birk Møller Lisbeth

Abstract excerpt

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 concentrations. Here we have analyzed the effect of 36 ATP7A missense mutations identified in phenotypically different MD...

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Identifiers

PMID: 28389643
DOI: 10.1038/s41598-017-00618-6
PMCID: PMC5428812

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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