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Article

Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration.

Journal of molecular neuroscience : MN - 1 Jun 2011

Poksay Karen S, Madden David T, Peter Anna K, Niazi Kayvan, Banwait Surita, Crippen Danielle, Bredesen Dale E, Rao Rammohan V

Abstract excerpt

Previously, we identified valosin-containing protein (VCP) as a mediator of ER stress-induced cell death. Mutations in the VCP gene including R93, R155, and R191 have been described that manifest clinically as hereditary inclusion body myopathy with Paget's disease of bone and frontotemporal dementia. In addition, other studies have demonstrated that as a consequence of a mutation generated in the second ATP...

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Identifiers

PMID: 21249466
DOI: 10.1007/s12031-010-9489-8
PMCID: PMC3084943

Genes

VCP

Variants

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

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