ArticleDisease models & mechanisms2021
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases.
Article in Disease models & mechanisms, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Targeting VCP with V8 suppresses glioblastoma development via formation of aggregates and disruption of mitophagy flux.Cellular oncology (Dordrecht, Netherlands) · 2026Article
- A familial natural short sleep mutation iniScience · 2025Article
- Functional analysis of human EED variants using Drosophila.Genetics · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
- VCP activator reverses nuclear proteostasis defects and enhances TDP-43 aggregate clearance in multisystem proteinopathy models.The Journal of clinical investigation · 2024Article
- Restricting bioenergetic efficiency enhances longevity and mitochondrial redox capacity in Drosophila melanogaster.Aging cell · 2024Article
- Sex matters in preclinical research.Disease models & mechanisms · 2024Article
- Fluvastatin-induced myofibrillar damage is associated with elevated ROS, and impaired fatty acid oxidation, and is preceded by mitochondrial morphological changes.Scientific reports · 2024Article
- HumanmicroPublication biology · 2024Article
- Article
- Progress and Perspective of CRISPR-Cas9 Technology in Translational Medicine.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Review
- VCP promotes tTAF-target gene expression and spermatocyte differentiation by downregulating mono-ubiquitylated H2A.Development (Cambridge, England) · 2023Article
- CRISPR/Cas9: implication for modeling and therapy of amyotrophic lateral sclerosis.Frontiers in neuroscience · 2023Review
- The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).Neurobiology of disease · 2022Review
- Genetic variance in human disease - modelling the future of genomic medicine.Disease models & mechanisms · 2022Article
- Branching Off: New Insight Into Lysosomes as Tubular Organelles.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in Valosin Containing Protein (VCP) are associated with several degenerative diseases, including multisystem proteinopathy (MSP-1) and amyotrophic lateral sclerosis. However, patients with VCP mutations vary widely in their pathology and clinical penetrance, making it difficult to devise effective treatment strategies. A deeper understanding of how each mutation affects VCP function could enhance the prediction of clinical outcomes and design of personalized treatment options. The power of a genetically tractable model organism coupled with well-established in vivo assays and a relatively short life cycle make Drosophila an attractive system to study VCP disease pathogenesis. Using CRISPR/Cas9, we have generated individual Drosophila knock-in mutants that include nine hereditary VCP disease mutations. Our models display many hallmarks of VCP-mediated degeneration, including progressive decline in mobility, protein aggregate accumulation and defects in lysosomal and mitochondrial function. We also made some novel and unexpected findings, including nuclear morphology defects and sex-specific phenotypic differences in several mutants. Taken together, the Drosophila VCP disease models generated in this study will be useful for studying the etiology of individual VCP patient mutations and testing potential genetic and/or pharmacological therapies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.