Associated Papers
Hypoxic stress is an early pathogenic event in human VCP-mutant ALS astrocytes.
Franklin HD et al.
Stem Cell Reports, 2026
ASPL couples the assembly of stress granules with their VCP-mediated disassembly.
Pareek G et al.
Science Advances, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
VCP p.Arg191Gln mutation in a patient with semantic dementia: a case report.
Kobayashi R et al.
Neurocase, 2025
Mislocalization of nucleic acids is a convergent and targetable mechanism in Alzheimer's disease and frontotemporal dementia.
Hung C et al.
Cell Reports, 2025
Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.
Koros C et al.
Biomedicines, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB.
Clarke BE et al.
Molecular Neurodegeneration, 2024
A pathogenic mutation in the ALS/FTD gene VCP induces mitochondrial hypermetabolism by modulating the permeability transition pore.
Vanderhaeghe S et al.
Acta Neuropathologica Communications, 2024
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.
Robinson SE et al.
Neurology. Genetics, 2024
VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.
Wang Z et al.
Autophagy, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
High-content analysis of proteostasis capacity in cellular models of amyotrophic lateral sclerosis (ALS).
Lambert-Smith IA et al.
Scientific Reports, 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
Understanding age-related pathologic changes in TDP-43 functions and the consequence on RNA splicing and signalling in health and disease.
Cheng F et al.
Ageing Research Reviews, 2024
ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons.
Klickstein JA et al.
Stem Cell Reports, 2024
Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.
Columbres RCA et al.
Scientific Reports, 2024
Elevated 4R tau contributes to endolysosomal dysfunction and neurodegeneration in VCP-related frontotemporal dementia.
Hung C et al.
Brain : a Journal of Neurology, 2024
VCP mutations and parkinsonism: An emerging link.
Alshaikh JT et al.
Clinical Parkinsonism & Related Disorders, 2024
Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease.
Piat C et al.
Clinical Parkinsonism & Related Disorders, 2024
Astrocyte-Neuron Interactions Contributing to Amyotrophic Lateral Sclerosis Progression.
Jensen BK
Advances in Neurobiology, 2024
Protein Assembly Modulation: A New Approach to Amyotrophic Lateral Sclerosis (ALS) Therapeutics.
Yu SF et al.
Journal of Experimental Neurology, 2024
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 2023
Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models.
Ahmed M et al.
Molecular Neurobiology, 2023
Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition.
Ziff OJ et al.
Neuron, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 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
RNA polymerase II-associated proteins reveal pathways affected in VCP-related amyotrophic lateral sclerosis.
Rafiee MR et al.
Brain : a Journal of Neurology, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 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
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 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
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
Physiological intron retaining transcripts in the cytoplasm abound during human motor neurogenesis.
Petrić Howe M et al.
Genome Research, 2022
Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells.
Ferrari V et al.
Neuropathology and Applied Neurobiology, 2022