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Article

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons.

The Journal of biological chemistry - 26 May 2017

Ludtmann Marthe H R, Arber Charles, Bartolome Fernando, de Vicente Macarena, Preza Elisavet, Carro Eva, Houlden Henry, Gandhi Sonia, Wray Selina, Abramov Andrey Y

Abstract excerpt

Mutations in the gene encoding valosin-containing protein (VCP) lead to multisystem proteinopathies including frontotemporal dementia. We have previously shown that patient-derived VCP mutant fibroblasts exhibit lower mitochondrial membrane potential, uncoupled respiration, and reduced ATP levels. This study addresses the underlying basis for mitochondrial uncoupling using VCP knockdown neuroblastoma cell lines,...

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Identifiers

PMID: 28360103
DOI: 10.1074/jbc.M116.762898
PMCID: PMC5448124

Genes

VCP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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