Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.E578Q
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VCP

NM_007126.5:p.E578Q

Associated Papers

Cryo-EM structure of the human Derlin-1/p97 complex reveals a hexameric channel in ERAD.

Wang Q et al.

Communications Biology, 2025

41107410 (PubMed )
Supplement: 42003_2025_8880_MOESM1_ESM.pdf

ATXN3 regulates lysosome regeneration after damage by targeting K48-K63-branched ubiquitin chains.

Reinders M et al.

The Embo Journal, 2025

Structural insights into the coupling between VCP, an essential unfoldase, and a deubiquitinase.

Vostal LE et al.

The Journal of Cell Biology, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Mechanism of allosteric inhibition of human p97/VCP ATPase and its disease mutant by triazole inhibitors.

Nandi P et al.

Communications Chemistry, 2024

VCP activator reverses nuclear proteostasis defects and enhances TDP-43 aggregate clearance in multisystem proteinopathy models.

Phan JM et al.

The Journal of Clinical Investigation, 2024

Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes.

Pontifex CS et al.

International Journal of Molecular Sciences, 2024

Characterizing ATP processing by the AAA+ protein p97 at the atomic level.

Shein M et al.

Nature Chemistry, 2024

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

Chu S et al.

Molecular Neurodegeneration, 2023

p97/VCP drives turnover of SUMOylated centromeric CCAN proteins and CENP-A.

van den Berg SJW et al.

Molecular Biology of the Cell, 2023

Novel VCP activator reverses multisystem proteinopathy nuclear proteostasis defects and enhances TDP-43 aggregate clearance.

Phan JM et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Pfeffer G et al.

Genes, 2022

Cryo-electron microscopy structures of VCP/p97 reveal a new mechanism of oligomerization regulation.

Yu G et al.

Iscience, 2021

Conserved L464 in p97 D1-D2 linker is critical for p97 cofactor regulated ATPase activity.

Zhang X et al.

The Biochemical Journal, 2021

Structural and Functional Analysis of Disease-Linked p97 ATPase Mutant Complexes.

Nandi P et al.

International Journal of Molecular Sciences, 2021

Mechanistic insight into substrate processing and allosteric inhibition of human p97.

Pan M et al.

Nature Structural & Molecular Biology, 2021

Targeting acute myeloid leukemia dependency on VCP-mediated DNA repair through a selective second-generation small-molecule inhibitor.

Roux B et al.

Science Translational Medicine, 2021

Seesaw conformations of Npl4 in the human p97 complex and the inhibitory mechanism of a disulfiram derivative.

Pan M et al.

Nature Communications, 2021

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

Darwich NF et al.

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

Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.

Yu Y et al.

Human Molecular Genetics, 2019

The p97-Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF8.

Singh AN et al.

The Embo Journal, 2019

Uncoupling of p97 ATPase activity has a dominant negative effect on protein extraction.

Rycenga HB et al.

Scientific Reports, 2019

VCP/p97 increases BMP signaling by accelerating ubiquitin ligase Smurf1 degradation.

Li H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Structure and Function of the AAA+ ATPase p97, a Key Player in Protein Homeostasis.

Hänzelmann P et al.

Sub-cellular Biochemistry, 2019

Adapted ATPase domain communication overcomes the cytotoxicity of p97 inhibitors.

Wei Y et al.

The Journal of Biological Chemistry, 2018

Ubiquitin-Independent Disassembly by a p97 AAA-ATPase Complex Drives PP1 Holoenzyme Formation.

Weith M et al.

Molecular Cell, 2018

AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation.

Hülsmann J et al.

Molecular & Cellular Proteomics : Mcp, 2018

ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules.

Turakhiya A et al.

Molecular Cell, 2018

Ubiquitin- and ATP-dependent unfoldase activity of P97/VCP•NPLOC4•UFD1L is enhanced by a mutation that causes multisystem proteinopathy.

Blythe EE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

p97/VCP promotes degradation of CRBN substrate glutamine synthetase and neosubstrates.

Nguyen TV et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants.

Zhang T et al.

Elife, 2017

VCP cooperates with UBXD1 to degrade mitochondrial outer membrane protein MCL1 in model of Huntington's disease.

Guo X et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.

Papadopoulos C et al.

The Embo Journal, 2017

Valosin-containing Protein (VCP)/p97 Segregase Mediates Proteolytic Processing of Cockayne Syndrome Group B (CSB) in Damaged Chromatin.

He J et al.

The Journal of Biological Chemistry, 2016

The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1.

Burana D et al.

The Journal of Biological Chemistry, 2016

Chromatin-associated degradation is defined by UBXN-3/FAF1 to safeguard DNA replication fork progression.

Franz A et al.

Nature Communications, 2016

Structural Basis of ATP Hydrolysis and Intersubunit Signaling in the AAA+ ATPase p97.

Hänzelmann P et al.

Structure (london, England : 1993), 2016

Altered cofactor regulation with disease-associated p97/VCP mutations.

Zhang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

Ubiquitin-SUMO circuitry controls activated fanconi anemia ID complex dosage in response to DNA damage.

Gibbs-Seymour I et al.

Molecular Cell, 2015

25557546 (PubMed )
Supplement: mmc1.pdf

Molecular pathogenesis of spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins.

Bin BH et al.

Embo Molecular Medicine, 2014

Specific inhibition of p97/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains.

Chou TF et al.

Journal of Molecular Biology, 2014

Inter-ring rotations of AAA ATPase p97 revealed by electron cryomicroscopy.

Yeung HO et al.

Open Biology, 2014

The p97-Ufd1-Npl4 ATPase complex ensures robustness of the G2/M checkpoint by facilitating CDC25A degradation.

Riemer A et al.

Cell Cycle (georgetown, Tex.), 2014

The ubiquitin-selective chaperone Cdc48/p97 associates with Ubx3 to modulate monoubiquitylation of histone H2B.

Bonizec M et al.

Nucleic Acids Research, 2014

Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants.

Tang WK et al.

The Journal of Biological Chemistry, 2013

VBP1 facilitates proteasome and autophagy-mediated degradation of MutS homologue hMSH4.

Xu Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Rapamycin-induced autophagy aggravates pathology and weakness in a mouse model of VCP-associated myopathy.

Ching JK et al.

Autophagy, 2013

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