Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.I151V
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VCP

NM_007126.5:p.I151V

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP

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

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 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

Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.

Feng SY et al.

Frontiers in Neurology, 2022

Rare Inherited forms of Paget's Disease and Related Syndromes.

Ralston SH et al.

Calcified Tissue International, 2019

Identifying pathogenicity of human variants via paralog-based yeast complementation.

Yang F et al.

Plos Genetics, 2017

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Evangelista T et al.

Neuromuscular Disorders : Nmd, 2016

Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein.

Boland-Freitas R et al.

Muscle & Nerve, 2016

Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Molecular basis of ALS and FTD: implications for translational studies.

Liščić RM

Arhiv Za Higijenu Rada I Toksikologiju, 2015

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

Kwok CT et al.

Journal of the Neurological Sciences, 2015

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Mehta SG et al.

Clinical Genetics, 2013

Phenotypic variability in three families with valosin-containing protein mutation.

Spina S et al.

European Journal of Neurology, 2013

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum.

Van Langenhove T et al.

Annals of Medicine, 2012

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

de Bot ST et al.

Brain : a Journal of Neurology, 2012

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS.

DeJesus-Hernandez M et al.

Neurology, 2011

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