Associated Papers
Hypoxic stress is an early pathogenic event in human VCP-mutant ALS astrocytes.
Franklin HD et al.
Stem Cell Reports, 2026
Aberrant nuclear pore complex degradation contributes to neurodegeneration in VCP disease.
Dubey SK et al.
Neuron, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.
Sangar M et al.
Calcified Tissue International, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 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
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1.
Alfano LN et al.
Annals of Clinical and Translational Neurology, 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
Identification of regulatory genes associated with POAG by integrating expression and sequencing data.
Wang X et al.
Ophthalmic Genetics, 2025
Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB.
Clarke BE et al.
Molecular Neurodegeneration, 2024
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.
Robinson SE et al.
Neurology. Genetics, 2024
Tau accumulation is cleared by the induced expression of VCP via autophagy.
Giong HK et al.
Acta Neuropathologica, 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
VCP activator reverses nuclear proteostasis defects and enhances TDP-43 aggregate clearance in multisystem proteinopathy models.
Phan JM et al.
The Journal of Clinical Investigation, 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
Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy.
Halseth M et al.
Neuromuscular Disorders : Nmd, 2024
Adolescent-onset multisystem proteinopathy due to a novel VCP variant.
Soontrapa P et al.
Neuromuscular Disorders : Nmd, 2024
VCP mutations and parkinsonism: An emerging link.
Alshaikh JT et al.
Clinical Parkinsonism & Related Disorders, 2024
Amplifying the Heat Shock Response Ameliorates ALS and FTD Pathology in Mouse and Human Models.
Ahmed M et al.
Molecular Neurobiology, 2023
The Role of Genetic Analysis in Demystifying the Diagnosis in a Middle-Aged Male Presenting With Proximal Muscle Weakness and Sclerotic-Lytic Skeletal Lesions.
Mukherjee S et al.
Cureus, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY et al.
American Journal of Human Genetics, 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
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
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
Novel VCP activator reverses multisystem proteinopathy nuclear proteostasis defects and enhances TDP-43 aggregate clearance.
Phan JM et al.
Biorxiv : the Preprint Server for Biology, 2023
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA et al.
Genes, 2023
The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition.
Ganji R et al.
Nature Communications, 2023
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.
Shmara A et al.
Neurology. Genetics, 2023
FUS-ALS hiPSC-derived astrocytes impair human motor units through both gain-of-toxicity and loss-of-support mechanisms.
Stoklund Dittlau K et al.
Molecular Neurodegeneration, 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
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