Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.R95G
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VCP

NM_007126.5:p.R95G

Associated Papers

Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models.

Hsu TT et al.

Molecular Psychiatry, 2025

Synergizing multiresolution simulations, interface redesign, and hotspot mapping to decipher pathogenic mutation-driven structural modulation in VCP.

Yadav AJ et al.

Computers in Biology and Medicine, 2025

Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.

Abdoalsadig E et al.

Orphanet Journal of Rare Diseases, 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

VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.

Wang Z et al.

Autophagy, 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

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

Sex bias in social deficits, neural circuits and nutrient demand in Cttnbp2 autism models.

Yen TL et al.

Brain : a Journal of Neurology, 2023

Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.

Shmara A et al.

Neurology. Genetics, 2023

VCP-related myopathy: a case series and a review of literature.

Iannibelli E et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2023

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

Protein synthesis as a modifiable target for autism-related dendritic spine pathophysiologies.

Lu MH et al.

The Febs Journal, 2022

Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.

Ferrari V et al.

International Journal of Molecular Sciences, 2022

Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.

Feng SY et al.

Frontiers in Neurology, 2022

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

Scarian E et al.

Frontiers in Neurology, 2022

NMR spectroscopy captures the essential role of dynamics in regulating biomolecular function.

Alderson TR et al.

Cell, 2021

Social behaviors and contextual memory of Vcp mutant mice are sensitive to nutrition and can be ameliorated by amino acid supplementation.

Huang TN et al.

Iscience, 2021

Phenotypic diversity in an international Cure VCP Disease registry.

Ikenaga C et al.

Orphanet Journal of Rare Diseases, 2020

32993728 (PubMed )
Supplement: 13023_2020_1551_MOESM2_ESM.pdf

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Observation of a Transient Reaction Intermediate Illuminates the Mechanochemical Cycle of the AAA-ATPase p97.

Rydzek S et al.

Journal of the American Chemical Society, 2020

Valosin-Containing Protein, a Calcium-Associated ATPase Protein, in Endoplasmic Reticulum and Mitochondrial Function and Its Implications for Diseases.

Sun X et al.

International Journal of Molecular Sciences, 2020

The role of mitochondria in amyotrophic lateral sclerosis.

Smith EF et al.

Neuroscience Letters, 2019

Rare Inherited forms of Paget's Disease and Related Syndromes.

Ralston SH et al.

Calcified Tissue International, 2019

Cooperative subunit dynamics modulate p97 function.

Huang R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Adapted ATPase domain communication overcomes the cytotoxicity of p97 inhibitors.

Wei Y et al.

The Journal of Biological Chemistry, 2018

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

Shinjo SK et al.

Clinical Rheumatology, 2018

The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders.

Shih YT et al.

Journal of Biomedical Science, 2018

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Obeidi E et al.

Clinical Genetics, 2018

Exploiting conformational plasticity in the AAA+ protein VCP/p97 to modify function.

Schütz AK et al.

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

A conserved inter-domain communication mechanism regulates the ATPase activity of the AAA-protein Drg1.

Prattes M et al.

Scientific Reports, 2017

Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.

Hirano M et al.

European Neurology, 2017

Structural basis for nucleotide-modulated p97 association with the ER membrane.

Tang WK et al.

Cell Discovery, 2017

A Dynamic molecular basis for malfunction in disease mutants of p97/VCP.

Schuetz AK et al.

Elife, 2016

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

Abrahao A et al.

Journal of the Neurological Sciences, 2016

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Evangelista T et al.

Neuromuscular Disorders : Nmd, 2016

Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response.

Wang T 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

VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation.

Shih YT et al.

Nature Communications, 2016

Role of the D1-D2 Linker of Human VCP/p97 in the Asymmetry and ATPase Activity of the D1-domain.

Tang WK et al.

Scientific Reports, 2016

Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Cryo-EM of the pathogenic VCP variant R155P reveals long-range conformational changes in the D2 ATPase ring.

Mountassif D et al.

Biochemical and Biophysical Research Communications, 2015

The N-terminal Region of the Ubiquitin Regulatory X (UBX) Domain-containing Protein 1 (UBXD1) Modulates Interdomain Communication within the Valosin-containing Protein p97.

Trusch F et al.

The Journal of Biological Chemistry, 2015

Genetic advances in sporadic inclusion body myositis.

Gang Q et al.

Current Opinion in Rheumatology, 2015

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Weihl CC et al.

Neuromuscular Disorders : Nmd, 2015

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