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 deficits associated with cognitive impairment have attracted much recent interest, motivated by emerging evidence that impaired hearing is a risk factor for cognitive decline …
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 …
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 …
Frontotemporal dementia (FTD) is a genetically and pathologically heterogeneous disorder characterized by personality changes, language impairment, and deficits of executive …
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 …
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 …
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 …
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 …