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
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
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
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
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
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
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.
Chu S et al.
Molecular Neurodegeneration, 2023
The Cdc48 N-terminal domain has a molecular switch that mediates the Npl4-Ufd1-Cdc48 complex formation.
Oppenheim T et al.
Structure (london, England : 1993), 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
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.
Ferrari V et al.
International Journal of Molecular Sciences, 2022
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.
Versluys L et al.
Frontiers in Neuroscience, 2022
Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.
Feng SY et al.
Frontiers in Neurology, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy.
Matsubara T et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
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
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
Emerging mechanisms of molecular pathology in ALS.
Peters OM et al.
The Journal of Clinical Investigation, 2015
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.
Jerath NU et al.
Case Reports in Genetics, 2015
A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.
Gu JM et al.
Bone, 2013
Progranulin and TDP-43: mechanistic links and future directions.
Kumar-Singh S
Journal of Molecular Neuroscience : Mn, 2011
TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.
Fiesel FC et al.
The Febs Journal, 2011
FTD and ALS: a tale of two diseases.
Ferrari R et al.
Current Alzheimer Research, 2011
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.
Lagier-Tourenne C et al.
Human Molecular Genetics, 2010
Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.
Barmada SJ et al.
Reviews in the Neurosciences, 2010
RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.
Hanson KA et al.
Wiley Interdisciplinary Reviews. Rna, 0
Genetics of dementia: insights from Latin America.
Ramos C et al.
Dementia & Neuropsychologia, 0