Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 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
Allosteric activation of VCP, an AAA unfoldase, by small molecule mimicry.
Jones NH et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY et al.
American Journal of Human Genetics, 2023
Allosteric activation of VCP, a AAA unfoldase, by small molecule mimicry.
Jones NH et al.
Biorxiv : the Preprint Server for Biology, 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
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
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
Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.
Feng SY et al.
Frontiers in Neurology, 2022
AAA+ ATPase p97/VCP mutants and inhibitor binding disrupt inter-domain coupling and subsequent allosteric activation.
Caffrey B et al.
The Journal of Biological Chemistry, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
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
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
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
An ALS disease mutation in Cdc48/p97 impairs 20S proteasome binding and proteolytic communication.
Barthelme D et al.
Protein Science : a Publication of the Protein Society, 2015
VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation.
Hirano M et al.
Neurobiology of Aging, 2015
VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.
Kwok CT et al.
Journal of the Neurological Sciences, 2015
[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].
Segawa M et al.
Rinsho Shinkeigaku = Clinical Neurology, 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
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.
González-Pérez P et al.
Neurology, 2012
Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs.
Takata T et al.
Journal of Structural Biology, 2012
Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.
Tiloca C et al.
Neurobiology of Aging, 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
Exome sequencing reveals VCP mutations as a cause of familial ALS.
Johnson JO et al.
Neuron, 2010