Associated Papers
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
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes.
Pontifex CS et al.
International Journal of Molecular Sciences, 2024
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.
Columbres RCA et al.
Scientific Reports, 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
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA et al.
Genes, 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
Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.
Ferrari V et al.
International Journal of Molecular Sciences, 2022
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Scarian E et al.
Frontiers in Neurology, 2022
Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.
Bourbouli M et al.
Brain Sciences, 2021
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
Korb MK et al.
Muscle & Nerve, 2021
Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.
Wu R et al.
Saudi Journal of Biological Sciences, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C et al.
Orphanet Journal of Rare Diseases, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Clemen CS et al.
Biochemical and Biophysical Research Communications, 2018
A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.
Plewa J et al.
Neuromuscular Disorders : Nmd, 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
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 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
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
Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
Surampalli A et al.
Journal of Genetic Counseling, 2015
Nucleocytoplasmic shuttling of valosin-containing protein (VCP/p97) regulated by its N domain and C-terminal region.
Song C et al.
Biochimica Et Biophysica Acta, 2015
A network of RNA and protein interactions in Fronto Temporal Dementia.
Fontana F et al.
Frontiers in Molecular Neuroscience, 2015
Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.
Ayaki T et al.
Acta Neuropathologica Communications, 2014
Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.
Mehta SG et al.
Clinical Genetics, 2013
A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.
Gu JM et al.
Bone, 2013
[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].
Igari R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.
Jacquin A et al.
Case Reports in Neurology, 2013
Structural and functional deviations in disease-associated p97 mutants.
Tang WK et al.
Journal of Structural Biology, 2012
Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs.
Takata T et al.
Journal of Structural Biology, 2012
The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP.
Niwa H et al.
The Journal of Biological Chemistry, 2012
The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.
Nalbandian A et al.
Journal of Molecular Neuroscience : Mn, 2011
A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.
Rohrer JD et al.
Journal of Neurology, 2011
Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis.
Weihl CC
Current Alzheimer Research, 2011
A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Fanganiello RD et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2011
Pathogenic VCP/TER94 alleles are dominant actives and contribute to neurodegeneration by altering cellular ATP level in a Drosophila IBMPFD model.
Chang YC et al.
Plos Genetics, 2011
Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Manno A et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2010
Valosin-containing protein (VCP) in novel feedback machinery between abnormal protein accumulation and transcriptional suppression.
Koike M et al.
The Journal of Biological Chemistry, 2010