Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.D395A
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VCP

NM_007126.5:p.D395A

Associated Papers

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

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

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY et al.

American Journal of Human 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

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

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Bruno F et al.

Biomedicines, 2022

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Pfeffer G et al.

Genes, 2022

Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.

Ferrari V et al.

International Journal of Molecular Sciences, 2022

A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family.

Bruno F et al.

Frontiers in Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."