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Article

A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore.

Acta neuropathologica communications - 10 Oct 2024

Vanderhaeghe Silke, Prerad Jovan, Tharkeshwar Arun Kumar, Goethals Elien, Vints Katlijn, Beckers Jimmy, Scheveneels Wendy, Debroux Eveline, Princen Katrien, Van Damme Philip, Fivaz Marc, Griffioen Gerard, Van Den Bosch Ludo

Abstract excerpt

Valosin-containing protein (VCP) is a ubiquitously expressed type II AAA+ ATPase protein, implicated in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This study aimed to explore the impact of the disease-causing VCPR191Q/wt mutation on mitochondrial function using a CRISPR/Cas9-engineered neuroblastoma cell line. Mitochondria in these cells are enlarged, with a depolarized...

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Identifiers

PMID: 39390590
DOI: 10.1186/s40478-024-01866-0
PMCID: PMC11465669

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore.PMID 39390590Read ↗

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