Frontotemporal dementia: latest evidence and clinical implications

JJ Young, M Lavakumar, D Tampi… - Therapeutic …, 2018 - journals.sagepub.com
Background: Frontotemporal dementia (FTD) describes a cluster of neurocognitive
syndromes that present with impairment of executive functioning, changes in behavior, and …

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 …

ALS: A bucket of genes, environment, metabolism and unknown ingredients

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 …

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 …

[HTML][HTML] VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

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 …

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

CC Weihl, A Pestronk, VE Kimonis - Neuromuscular Disorders, 2009 - Elsevier
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 …

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 …

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

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 …

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 …

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

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 …