Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 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
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
Wang Z et al.
Autophagy, 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
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
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.
Shmara A et al.
Neurology. 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
CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases.
Wall JM et al.
Disease Models & Mechanisms, 2021
A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.
Bruno F et al.
Frontiers in Genetics, 2021
Phenotypic diversity in an international Cure VCP Disease registry.
Ikenaga C et al.
Orphanet Journal of Rare Diseases, 2020
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
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
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
A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers.
Liewluck T et al.
Muscle & Nerve, 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 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
[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
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
González-Pérez P et al.
Neurology, 2012
Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.
Abramzon Y et al.
Neurobiology of Aging, 2012
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
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 mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.
Gitcho MA et al.
The Journal of Biological Chemistry, 2009
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
TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.
Weihl CC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.
Watts GD et al.
Clinical Genetics, 2007
Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy.
Guinto JB et al.
Acta Neuropathologica, 2007
Frontotemporal lobar degeneration with ubiquitin-positive inclusions: a molecular genetic update.
van der Zee J et al.
Neuro-degenerative Diseases, 2007