The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

H Meyer, CC Weihl - Journal of cell science, 2014 - journals.biologists.com
The ATPase valosin-containing protein (VCP)/p97 has emerged as a central and important
element of the ubiquitin system. Together with a network of cofactors, it regulates an ever …

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

G Pfeffer, G Lee, CS Pontifex, RD Fanganiello, A Peck… - Genes, 2022 - mdpi.com
In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …

Hearing and dementia

CJD Hardy, CR Marshall, HL Golden, CN Clark… - Journal of …, 2016 - Springer
Hearing deficits associated with cognitive impairment have attracted much recent interest,
motivated by emerging evidence that impaired hearing is a risk factor for cognitive decline …

Genotype‐phenotype study in patients with valosin‐containing protein mutations associated with multisystem proteinopathy

E Al‐Obeidi, S Al‐Tahan, A Surampalli… - Clinical …, 2018 - Wiley Online Library
Mutations in valosin‐containing protein (VCP), an ATPase involved in protein degradation
and autophagy, cause VCP disease, a progressive autosomal dominant adult onset …

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

SK Custer, M Neumann, H Lu… - Human molecular …, 2010 - academic.oup.com
Inclusion body myopathy associated with Paget's disease of bone and frontotemporal
dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mutations in …

Phenotypic heterogeneity of monogenic frontotemporal dementia

A Benussi, A Padovani, B Borroni - Frontiers in aging neuroscience, 2015 - frontiersin.org
Frontotemporal dementia (FTD) is a genetically and pathologically heterogeneous disorder
characterized by personality changes, language impairment, and deficits of executive …

Mutations in the Human AAA+ Chaperone p97 and Related Diseases

WK Tang, D Xia - Frontiers in molecular biosciences, 2016 - frontiersin.org
A number of neurodegenerative diseases have been linked to mutations in the human
protein p97, an abundant cytosolic AAA+ (A TPase a ssociated with various cellular a …

Genotype–phenotype links in frontotemporal lobar degeneration

S Van Mossevelde, S Engelborghs… - Nature Reviews …, 2018 - nature.com
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain
diseases with highly heterogeneous clinical, neuropathological and genetic characteristics …

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

A Nalbandian, S Donkervoort, E Dec… - Journal of Molecular …, 2011 - Springer
Inclusion body myopathy associated with Paget's disease of bone and frontotemporal
dementia (IBMPFD) is a progressive, fatal genetic disorder with variable penetrance …

The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP

H Niwa, CA Ewens, C Tsang, HO Yeung… - Journal of Biological …, 2012 - ASBMB
p97/valosin-containing protein (VCP) is a type II ATPase associated with various cellular
activities that forms a homohexamer with each protomer containing an N-terminal domain (N …