Associated Papers
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Loss of function of VCP/TER94 causes neurodegeneration.
Tsumaki K et al.
Disease Models & Mechanisms, 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 pathogenic variant p.R487H in Parkinson's disease.
Piat C et al.
Clinical Parkinsonism & Related Disorders, 2024
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY et al.
American Journal of Human Genetics, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 2023
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.
Chu S et al.
Molecular Neurodegeneration, 2023
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA et al.
Genes, 2023
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene.
Miura S et al.
Frontiers in Genetics, 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
Prediction and verification of the AD-FTLD common pathomechanism based on dynamic molecular network analysis.
Jin M et al.
Communications Biology, 2021
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases.
Wall JM et al.
Disease Models & Mechanisms, 2021
NMR spectroscopy captures the essential role of dynamics in regulating biomolecular function.
Alderson TR et al.
Cell, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Multisystem Proteinopathy Mutations in VCP/p97 Increase NPLOC4·UFD1L Binding and Substrate Processing.
Blythe EE et al.
Structure (london, England : 1993), 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
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
IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.
Bayraktar O et al.
Plos One, 2016
Mutations in the Human AAA+ Chaperone p97 and Related Diseases.
Tang WK et al.
Frontiers in Molecular Biosciences, 2016
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
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Gonzalez MA et al.
Brain : a Journal of Neurology, 2014
Parkinsonian syndrome in familial frontotemporal dementia.
Siuda J et al.
Parkinsonism & Related Disorders, 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
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 unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.
Erzurumlu Y et al.
The International Journal of Biochemistry & Cell Biology, 2013
Phenotypic variability in three families with valosin-containing protein mutation.
Spina S et al.
European Journal of Neurology, 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
Exome sequencing reveals VCP mutations as a cause of familial ALS.
Johnson JO et al.
Neuron, 2010
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
A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants.
Tang WK et al.
The Embo Journal, 2010
Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.
Ju JS et al.
Human Molecular Genetics, 2010
VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder.
Kimonis VE et al.
Biochimica Et Biophysica Acta, 2008