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 …
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 …
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
Neuronal inclusions of aggregated RNA‐binding protein fused in sarcoma (FUS) are
hallmarks of ALS and frontotemporal dementia subtypes. Intriguingly, FUS's nearly …
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 …
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 …
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 …
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 …
motor system and presents with progressive muscle weakness. Most patients survive for …
Autophagy dysregulation in ALS: when protein aggregates get out of hand
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 …
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 …
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 …
components, dysfunction of which causes amyotrophic lateral sclerosis (ALS). However …