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Article

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.

Neurobiology of disease - 1 Sept 2015

Zlatic Stephanie, Comstra Heather Skye, Gokhale Avanti, Petris Michael J, Faundez Victor

Abstract excerpt

ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficienc...

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Identifiers

PMID: 25583185
DOI: 10.1016/j.nbd.2014.12.024
PMCID: PMC4499018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25583185-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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