RNA-binding proteins with prion-like domains in health and disease

AF Harrison, J Shorter - Biochemical Journal, 2017 - portlandpress.com
Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD).
PrLDs are low-complexity domains that possess a similar amino acid composition to prion …

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 …

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore… - Nature, 2013 - nature.com
Algorithms designed to identify canonical yeast prions predict that around 250 human
proteins, including several RNA-binding proteins associated with neurodegenerative …

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 …

TDP-43 pathology: from noxious assembly to therapeutic removal

SS Keating, R San Gil, MEV Swanson, EL Scotter… - Progress in …, 2022 - Elsevier
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …

[HTML][HTML] VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations

NC Kim, E Tresse, RM Kolaitis, A Molliex, RE Thomas… - Neuron, 2013 - cell.com
Mutations in VCP cause multisystem degeneration impacting the nervous system, muscle,
and/or bone. Patients may present with ALS, Parkinsonism, frontotemporal dementia …

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 …

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 …