[HTML][HTML] Phase separation and neurodegenerative diseases: a disturbance in the force

A Zbinden, M Pérez-Berlanga, P De Rossi… - Developmental cell, 2020 - cell.com
Protein aggregation is the main hallmark of neurodegenerative diseases. Many proteins
found in pathological inclusions are known to undergo liquid-liquid phase separation, a …

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 …

Phosphorylation of the FUS low‐complexity domain disrupts phase separation, aggregation, and toxicity

Z Monahan, VH Ryan, AM Janke, KA Burke… - The EMBO …, 2017 - embopress.org
Neuronal inclusions of aggregated RNA‐binding protein fused in sarcoma (FUS) are
hallmarks of ALS and frontotemporal dementia subtypes. Intriguingly, FUS's nearly …

ALS/FTD mutation-induced phase transition of FUS liquid droplets and reversible hydrogels into irreversible hydrogels impairs RNP granule function

T Murakami, S Qamar, JQ Lin, GSK Schierle, E Rees… - Neuron, 2015 - cell.com
The mechanisms by which mutations in FUS and other RNA binding proteins cause ALS
and FTD remain controversial. We propose a model in which low-complexity (LC) domains …

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

IRA Mackenzie, M Neumann - Journal of neurochemistry, 2016 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …

ALS/FTD-linked mutation in FUS suppresses intra-axonal protein synthesis and drives disease without nuclear loss-of-function of FUS

J López-Erauskin, T Tadokoro, MW Baughn, B Myers… - Neuron, 2018 - cell.com
Through the generation of humanized FUS mice expressing full-length human FUS, we
identify that when expressed at near endogenous murine FUS levels, both wild-type and …

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

PM Andersen, A Al-Chalabi - Nature Reviews Neurology, 2011 - nature.com
Hereditary amyotrophic lateral sclerosis (ALS) encompasses a group of genetic disorders
characterized by adult-onset loss of the lower and upper motor neuron systems, often with …

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

F Fecto, J Yan, SP Vemula, E Liu, Y Yang… - Archives of …, 2011 - jamanetwork.com
Background The SQSTM1 gene encodes p62, a major pathologic protein involved in
neurodegeneration. Objective To examine whether SQSTM1 mutations contribute to familial …

The role of FUS gene variants in neurodegenerative diseases

H Deng, K Gao, J Jankovic - Nature Reviews Neurology, 2014 - nature.com
The neurodegenerative diseases are a diverse group of disorders characterized by
progressive loss of specific groups of neurons. These diseases affect different populations …

[HTML][HTML] Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

Y Baradaran-Heravi, C Van Broeckhoven… - Neurobiology of …, 2020 - Elsevier
Stress granules (SGs) are dynamic membraneless compartments composed out of RNA-
binding proteins (RBPs) and RNA molecules that assemble temporarily to allow the cell to …