Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.R155S
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VCP

NM_007126.5:p.R155S

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.

Wang Z et al.

Autophagy, 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

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

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

Genetics of frontotemporal dementia in China.

Jiang Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

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

Ralston SH et al.

Calcified Tissue International, 2019

Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control study.

Tábuas-Pereira M et al.

Muscle & Nerve, 2019

VCP myopathy: A family with unusual clinical manifestations.

Guo X et al.

Muscle & Nerve, 2019

The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

Clemen CS et al.

Biochemical and Biophysical Research Communications, 2018

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

Shinjo SK et al.

Clinical Rheumatology, 2018

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

Abrahao A et al.

Journal of the Neurological Sciences, 2016

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

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

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics.

Nalbandian A et al.

Mitochondrion, 2015

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 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

[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].

Igari R et al.

Rinsho Shinkeigaku = Clinical Neurology, 2013

Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.

Jacquin A et al.

Case Reports in Neurology, 2013

Structural and functional deviations in disease-associated p97 mutants.

Tang WK et al.

Journal of Structural Biology, 2012

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Nalbandian A et al.

Journal of Molecular Neuroscience : Mn, 2011

A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.

Rohrer JD et al.

Journal of Neurology, 2011

Imbalances in p97 co-factor interactions in human proteinopathy.

Fernández-Sáiz V et al.

Embo Reports, 2010

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD.

Tresse E et al.

Autophagy, 2010

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts.

Vesa J et al.

Neuromuscular Disorders : Nmd, 2009

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.

Stojkovic T et al.

Neuromuscular Disorders : Nmd, 2009

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