ArticleJournal of molecular neuroscience : MN2011
Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration.
Article in Journal of molecular neuroscience : MN, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 16 citations in OpenAlex.
- Case report of a family with hereditary inclusion body myopathy withFrontiers in neurology · 2023Article
- Direct Transcriptional Effects of Apolipoprotein E.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2015Article
- VRK2 anchors KSR1-MEK1 to endoplasmic reticulum forming a macromolecular complex that compartmentalizes MAPK signaling.Cellular and molecular life sciences : CMLS · 2012Article
- Frontotemporal dementia: from Mendelian genetics towards genome wide association studies.Journal of molecular neuroscience : MN · 2011Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
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 binding domain of VCP (K524A), cells accumulated large cytoplasmic vacuoles and underwent programmed cell death. In order to better understand the biochemical and molecular consequences of the clinically relevant VCP mutations as well as the genetically engineered ATPase-inactive mutant K524A and any relationship these may have to ER stress-induced cell death, we introduced analogous mutations separately and together into the human VCP gene and evaluated their effect on proteasome activity, Huntingtin protein aggregation and ER stress-induced cell death. Our results indicate that the VCP K524A mutant and the triple mutant VCP R93C-R155C-K524A block protein degradation, trigger Huntingtin aggregate formation, and render cells highly susceptible to ER stress-induced cell death as compared to VCPWT or other VCP mutants.
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Registered trials
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