Associated Papers
Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Aynaashe A et al.
Amino Acids, 2026
Proteasome inhibition by VR23 enhances autophagic clearance of FUSP525L-mediated persistent stress granule in SH-SY5Y cells.
Kim SH et al.
Molecular Brain, 2026
Large-scale drug screening in iPSC-derived motor neurons from sporadic ALS patients identifies a potential combinatorial therapy.
Bye CR et al.
Nature Neuroscience, 2026
Neurodegenerative disease and autophagy in iPSC-based models.
Odonchimed S et al.
Neuroscience Research, 2026
Aberrant nuclear pore complex degradation contributes to neurodegeneration in VCP disease.
Dubey SK et al.
Neuron, 2025
Cardiomyopathy in valosin-containing protein multisystem proteinopathy: Evaluation, diagnosis, and management.
Chan JM et al.
American Heart Journal Plus : Cardiology Research and Practice, 2025
Antisense oligonucleotides targeting valosin-containing protein ameliorate muscle pathology and molecular defects in cell and mouse models of multisystem proteinopathy.
Pal P et al.
Clinical and Translational Medicine, 2025
Advances in the genetics of Paget's disease of bone: from pathophysiology, diagnosis to clinical implications.
Michou L et al.
Expert Review of Endocrinology & Metabolism, 2025
Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.
Laurini C et al.
Brain : a Journal of Neurology, 2025
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
Synergizing multiresolution simulations, interface redesign, and hotspot mapping to decipher pathogenic mutation-driven structural modulation in VCP.
Yadav AJ et al.
Computers in Biology and Medicine, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 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
Prevalence and impact of comorbidities in amyotrophic lateral sclerosis.
Jellinger KA
Journal of Neural Transmission (vienna, Austria : 1996), 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
ALS-related p97 R155H mutation disrupts lysophagy in iPSC-derived motor neurons.
Klickstein JA et al.
Stem Cell Reports, 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
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N et al.
Journal of Neurology, 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
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 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
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
Mechanism of allosteric inhibition of human p97/VCP ATPase and its disease mutant by triazole inhibitors.
Nandi P et al.
Communications Chemistry, 2024
Fatty links between multisystem proteinopathy and small VCP-interacting protein.
Ramzan F et al.
Cell Death Discovery, 2024
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.
Maver A et al.
European Journal of Human Genetics : Ejhg, 2024
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Leighton DJ et al.
Journal of Neurology, 2024
Age-dependent dynamics of neuronal VAPBALS inclusions in the adult brain.
Thulasidharan A et al.
Neurobiology of Disease, 2024
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy.
Picher-Martel V et al.
Neurology. Genetics, 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
p37 regulates VCP/p97 shuttling and functions in the nucleus and cytosol.
Wrobel L et al.
Science Advances, 2024
Motor and Non-motor Outcomes of Deep Brain Stimulation across the Genetic Panorama of Parkinson's Disease: A Multi-Scale Meta-Analysis.
Asimakidou E et al.
Movement Disorders Clinical Practice, 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