C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?

A Marcelo, R Koppenol, LP de Almeida, CA Matos… - Cell death & …, 2021 - nature.com
Stress granules (SGs) are membraneless cell compartments formed in response to different
stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other …

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 …

[HTML][HTML] WNK kinases sense molecular crowding and rescue cell volume via phase separation

CR Boyd-Shiwarski, DJ Shiwarski, SE Griffiths… - Cell, 2022 - cell.com
When challenged by hypertonicity, dehydrated cells must recover their volume to survive.
This process requires the phosphorylation-dependent regulation of SLC12 cation chloride …

Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases

JL Carey, L Guo - Frontiers in molecular biosciences, 2022 - frontiersin.org
Liquid-liquid phase separation of RNA-binding proteins mediates the formation of numerous
membraneless organelles with essential cellular function. However, aberrant phase …

[HTML][HTML] RNA dysregulation in amyotrophic lateral sclerosis

Z Butti, SA Patten - Frontiers in genetics, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease
and is characterized by the degeneration of upper and lower motor neurons. It has become …

Modelling amyotrophic lateral sclerosis: progress and possibilities

P Van Damme, W Robberecht… - Disease models & …, 2017 - journals.biologists.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the
motor system and presents with progressive muscle weakness. Most patients survive for …

Autophagy dysregulation in ALS: when protein aggregates get out of hand

N Ramesh, UB Pandey - Frontiers in molecular neuroscience, 2017 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that results from the
loss of upper and lower motor neurons. One of the key pathological hallmarks in diseased …

Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD

A Starr, R Sattler - Brain research, 2018 - Elsevier
Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper
and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due …

In vivo stress granule misprocessing evidenced in a FUS knock-in ALS mouse model

X Zhang, F Wang, Y Hu, R Chen, D Meng, L Guo, H Lv… - Brain, 2020 - academic.oup.com
Many RNA-binding proteins, including TDP-43, FUS, and TIA1, are stress granule
components, dysfunction of which causes amyotrophic lateral sclerosis (ALS). However …