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Article

Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.

American journal of medical genetics. Part A - 1 Oct 2010

Donsante Anthony, Johnson Paul, Jansen Laura A, Kaler Stephen G

Abstract excerpt

The primary mechanism of copper transport to the brain is unknown, although this process is drastically impaired in Menkes disease, an X-linked neurodevelopmental disorder caused by mutations in an evolutionarily conserved copper transporter, ATP7A. Potential central nervous system entry routes for copper include brain capillary endothelial cells that originate from mesodermal angioblasts and form the blood-brain...

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Identifiers

PMID: 20799318
DOI: 10.1002/ajmg.a.33632
PMCID: PMC3117432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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