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 …
M Zufiria, FJ Gil-Bea, R Fernandez-Torron… - Progress in …, 2016 - Elsevier
The scientific scenario of amyotrophic lateral sclerosis (ALS) has dramatically changed since TDP-43 aggregates were discovered in 2006 as the main component of the neuronal …
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 …
VE Kimonis, E Fulchiero, J Vesa, G Watts - Biochimica et Biophysica Acta …, 2008 - Elsevier
Inclusion body myopathy (IBM) associated with Paget disease of the bone (PDB) and frontotemporal dementia (FTD)(now called IBMPFD), is a progressive autosomal dominant …
Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated with Paget's disease of the bone (PDB) and fronto-temporal dementia (FTD) or …
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 …
S Chu, X Xie, C Payan, U Stochaj - Molecular Neurodegeneration, 2023 - Springer
The AAA+ ATPase valosin containing protein (VCP) is essential for cell and organ homeostasis, especially in cells of the nervous system. As part of a large network, VCP …
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 …
VE Kimonis, SG Mehta, EC Fulchiero… - American journal of …, 2008 - Wiley Online Library
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder caused …