Associated Papers
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 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
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Schiava M et al.
Neurology. Genetics, 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
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
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
Focal epilepsy followed by rapidly progressive frontotemporal dementia: a rare manifestation of VCP mutation.
Carlucci V et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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
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
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy.
Boock V et al.
Current Opinion in Neurology, 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
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.
Columbres RCA et al.
Genes, 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
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
Case report of a family with hereditary inclusion body myopathy with VCP gene variant and literature review.
Asadauskaitė G et al.
Frontiers in Neurology, 2023
Cerebrospinal Fluid Biomarker Profile in TDP-43-Related Genetic Frontotemporal Dementia.
Kapaki E et al.
Journal of Personalized Medicine, 2022
A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.
Shmara A et al.
Orphanet Journal of Rare Diseases, 2022
The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
Johnson MA et al.
Neurobiology of Disease, 2022
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 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
The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Scarian E et al.
Frontiers in Neurology, 2022
Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Patients.
Bourbouli M et al.
Brain Sciences, 2021
DNA damage as a mechanism of neurodegeneration in ALS and a contributor to astrocyte toxicity.
Kok JR et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Neuronal VCP loss of function recapitulates FTLD-TDP pathology.
Wani A et al.
Cell Reports, 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
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021