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Article

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.

Human molecular genetics - 15 Apr 2012

Yi Ling, Donsante Anthony, Kennerson Marina L, Mercer Julian F B, Garbern James Y, Kaler Stephen G

Abstract excerpt

ATP7A is a P-type ATPase that regulates cellular copper homeostasis by activity at the trans-Golgi network (TGN) and plasma membrane (PM), with the location normally governed by intracellular copper concentration. Defects in ATP7A lead to Menkes disease or its milder variant, occipital horn syndrome or to a newly discovered condition, ATP7A-related distal motor neuropathy (DMN), for which the precise...

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Source

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Identifiers

PMID: 22210628
DOI: 10.1093/hmg/ddr612
PMCID: PMC3313796

Genes

VCP

Provenance

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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Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.PMID 22210628Read ↗

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