ArticleScience (New York, N.Y.)2020
Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau.
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Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers.
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87citing papers in PubMed
11.2field-weighted citation impact, top 1% of its field
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Who cites it
87 citing papers in PubMed, 140 citations in OpenAlex.
- Astrocyte-Predominant Tau Pathology in a Patient With VCP R191Q Variant.Neuropathology : official journal of the Japanese Society of Neuropathology · 2026Article
- Repositioning of polyubiquitin alters the pathologic tau filament structure.Nature structural & molecular biology · 2026Article
- FAF1 and FAF2 enhance unfolding by p97-UFD1-NPL4 complex enabling rational design of p97 activators.The EMBO journal · 2026Article
- Deep Plasma Proteomics-Based Diagnostic Panel for Early Detection of Amnestic Mild Cognitive Impairment.Journal of proteome research · 2026Article
- Valosin-containing protein, neural proteopathies, and implications for neural regeneration.Neural regeneration research · 2026Article
- Frontotemporal dementia associated CHCHD10Cell death & disease · 2026Article
- MicroRNA-181 influences Alzheimer's risk by regulating neprilysin and microtubule-associated tau pathways, offering a novel target.bioRxiv : the preprint server for biology · 2026Article
- Gene Expression Analysis of Mitochondria-Associated Membrane (MAM)-Related Genes in ER Stress and Alzheimer's Disease.Cellular and molecular neurobiology · 2026Article
- Valosin-containing protein is cargo in Amyloid Precursor Protein extracellular vesicles.Cell communication and signaling : CCS · 2026Article
- ASPL-driven subunit exchange remodels VCP/p97 hexamers and is impaired by a multisystem proteinopathy mutation.bioRxiv : the preprint server for biology · 2026Article
- The vacuolar tauopathy-associated mutation D395G confers redox sensitivity to p97/VCP.bioRxiv : the preprint server for biology · 2026Article
- Proximity proteomics reveals OTUD6B regulation of stress granule dynamics through coalescence with VCP/p97.Cell death & disease · 2026Article
- SVIP in plasma: a candidate blood-based biomarker for early detection of amnestic mild cognitive impairment.Frontiers in aging neuroscience · 2026Article
- Article
- Creutzfeldt-Jakob disease-like imaging in valosin-containing protein D395G mutation.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- A chaperone-proteasome-based fragmentation machinery is essential for aggrephagy.Nature cell biology · 2025Article
- Allosteric regulation of proteolytic machines unveiled by the synergy between cryo-EM and solution NMR spectroscopy.The Biochemical journal · 2025Review
- Shared and disease-specific pathways in frontotemporal dementia and Alzheimer's and Parkinson's diseases.Nature medicine · 2025Article
- Multimodal zero-shot learning of previously unseen epitranscriptomes from RNA-seq data.Briefings in bioinformatics · 2025Article
- Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
27 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 5 institutions in 2 countries.
Nabil F Darwich *Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-8324-9201
Jessica M Phan *Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-0240-9999
Boram KimTranslational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-2608-3778
EunRan SuhCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.
John D PapatriantafyllouMedical Center of Athens, Memory Disorders Clinic and Day Care Center for Third Age "IASIS," Athens, Greece.ORCID 0000-0002-7835-2706
Lakshmi ChangolkarCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0003-2532-4768
Aivi T NguyenTranslational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0003-1809-9451
Caroline M O'RourkeTranslational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.
Zhuohao HeCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0003-1505-8750
Sílvia PortaCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0003-3667-4325
Garrett S GibbonsCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0001-6619-2672
Kelvin C LukCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-6591-6269
Sokratis G PapageorgiouFirst University Department of Neurology, Eginiteio University Hospital, National and Kapodistrian University of Athens, Athens, Greece.ORCID 0000-0001-8863-3635
Murray GrossmanDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-7447-6218
Lauren MassimoDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-3407-7335
David J IrwinDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-5599-5098
Corey T McMillanDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, PA, USA.
Ilya M NasrallahDepartment of Radiology, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0003-2346-7562
Camilo ToroNIH Undiagnosed Diseases Program, National Human Genome Research Institute, MD, USA.
Geoffrey K AguirreDepartment of Neurology, Perelman School of Medicine at the University of Pennsylvania, PA, USA.ORCID 0000-0002-4028-3100
Vivianna M Van DeerlinCenter for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA.
Edward B LeeTranslational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, PA, USA. edward.lee@pennmedicine.upenn.edu.ORCID 0000-0002-4589-1180
University of Pennsylvania · USInstitute for Neurodegenerative Disorders · USAthens Medical Center · GRNational and Kapodistrian University of Athens · GRNational Human Genome Research Institute · US
Funding
Transgenic Mouse Models of Tau PathologiesP01AG017586 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, VIRGINIA M · 2000 to 2021
$37.3MUPenn ADCC Biomarker CoreP30AG010124 · NIA · UNIVERSITY OF PENNSYLVANIA · PI XIE, SHARON XIANGWEN · 1991 to 2020
$35.1MUnderstanding Environmental Contributions to Heterogeneity in bvFTD.P01AG066597 · NIA · UNIVERSITY OF PENNSYLVANIA · PI David John Irwin, Corey T McMillan · 2020 to 2026
$18.8MTraining in Alzheimer’s and Age-Related Neurodegenerative DiseasesT32AG000255 · NIA · UNIVERSITY OF PENNSYLVANIA · PI ALICE S CHEN-PLOTKIN, VIRGINIA M LEE · 1997 to 2026
$12.5MSpreading Tau Pathology in Non-Amnestic Alzheimer's DiseaseR01AG054519 · NIA · UNIVERSITY OF PENNSYLVANIA · PI Jeffrey S Phillips · 2018 to 2026
$7.4MMicroscopic and Large-Scale Networks of Molecular Pathology in Frontotemporal Lobar DegenerationR01NS109260 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI IRWIN, DAVID JOHN · 2019 to 2023
$3.8MImpact of Timing, Targeting, and Brain State on rTMS of Human and Non-Human PrimatesRF1MH114253 · NIMH · DUKE UNIVERSITY · PI SOMMER, MARC A · 2017 to 2017
$3.0MEpigenetic Editing of Mutant C9orf72R01NS095793 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI LEE, EDWARD BYUNG-HA · 2016 to 2020
$2.2MVacuolar TauopathyR56AG063344 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LEE, EDWARD BYUNG-HA · 2019 to 2019
$625kCharacterization of a Novel Mutation Associated with Vacuolar TauopathyF30AG058317 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DARWICH, NABIL · 2017 to 2020
$114kDoris Duke Charitable Foundation 2014100NIA NIH HHS F30 AG058317NIA NIH HHS P01 AG017586NIA NIH HHS P01 AG066597NIA NIH HHS P30 AG010124NIA NIH HHS R01 AG054519NIA NIH HHS R56 AG063344NIA NIH HHS T32 AG000255NIMH NIH HHS RF1 MH114253NINDS NIH HHS R01 NS095793NINDS NIH HHS R01 NS109260
Abstract
Neurodegeneration in Alzheimer's disease (AD) is closely associated with the accumulation of pathologic tau aggregates in the form of neurofibrillary tangles. We found that a p.Asp395Gly mutation in
Indexed as
Protein AggregatesAlzheimer DiseaseAnimalsAspartic AcidGene Knock-In TechniquesGenes, DominantGlycineHumansMice, Inbred C57BLMice, Mutant StrainsMutationNeurofibrillary TanglesPhosphorylationProtein Aggregation, Pathologicaltau ProteinsValosin Containing ProteinAspartic AcidGlycineMAPT protein, humanProtein Aggregatestau ProteinsValosin Containing ProteinVCP protein, humanVcp protein, mouse
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