Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.D395G
Back to variants list

VCP

NM_007126.5:p.D395G

Associated Papers

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Creutzfeldt-Jakob disease-like imaging in valosin-containing protein D395G mutation.

Kobayashi R et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

Clinicopathological characterization of vacuolar tauopathy associated with VCP D395G.

Watanabe R et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-Analysis.

Jiménez-García AM et al.

International Journal of Molecular Sciences, 2025

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.

Peck A et al.

Neurobiology of Disease, 2025

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Tau accumulation is cleared by the induced expression of VCP via autophagy.

Giong HK et al.

Acta Neuropathologica, 2024

Novel tau filament folds in individuals with MAPT mutations P301L and P301T.

Schweighauser M et al.

Biorxiv : the Preprint Server for Biology, 2024

Allosteric activation of VCP, an AAA unfoldase, by small molecule mimicry.

Jones NH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies.

Langerscheidt F et al.

Journal of Neurology, 2024

Tau filaments with the chronic traumatic encephalopathy fold in a case of vacuolar tauopathy with VCP mutation D395G.

Qi C et al.

Acta Neuropathologica, 2024

Elevated 4R tau contributes to endolysosomal dysfunction and neurodegeneration in VCP-related frontotemporal dementia.

Hung C et al.

Brain : a Journal of Neurology, 2024

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY et al.

American Journal of Human Genetics, 2023

Allosteric activation of VCP, a AAA unfoldase, by small molecule mimicry.

Jones NH et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Schiava M et al.

Neurology. Genetics, 2023

Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review.

Leccese D et al.

Clinical Neurology and Neurosurgery, 2023

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.

Stump AL et al.

Biomolecules, 2023

Identification of phosphorylated tau protein interactors in progressive supranuclear palsy (PSP) reveals networks involved in protein degradation, stress response, cytoskeletal dynamics, metabolic processes, and neurotransmission.

Radford RAW et al.

Journal of Neurochemistry, 2023

Amyotrophic lateral sclerosis.

Younger DS et al.

Handbook of Clinical Neurology, 2023

Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.

Kobayashi R et al.

Bmc Neurology, 2022

The functional importance of VCP to maintaining cellular protein homeostasis.

Ahlstedt BA et al.

Biochemical Society Transactions, 2022

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Johnson MA et al.

Neurobiology of Disease, 2022

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Pfeffer G et al.

Genes, 2022

VCP suppresses proteopathic seeding in neurons.

Zhu J et al.

Molecular Neurodegeneration, 2022

The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Scarian E et al.

Frontiers in Neurology, 2022

P97/VCP ATPase inhibitors can rescue p97 mutation-linked motor neuron degeneration.

Wang F et al.

Brain Communications, 2022

Neuronal VCP loss of function recapitulates FTLD-TDP pathology.

Wani A et al.

Cell Reports, 2021

Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis.

Root J et al.

Neurobiology of Disease, 2021

Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau.

Darwich NF et al.

Science (new York, N.y.), 2020

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Ramos EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.

Ramos EM et al.

Neurobiology of Aging, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."