ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Nuclear speckles: molecular organization, biological function and role in disease

L Galganski, MO Urbanek… - Nucleic acids …, 2017 - academic.oup.com
The nucleoplasm is not homogenous; it consists of many types of nuclear bodies, also
known as nuclear domains or nuclear subcompartments. These self-organizing structures …

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 …

Oxidative stress in amyotrophic lateral sclerosis: pathophysiology and opportunities for pharmacological intervention

T Cunha-Oliveira, L Montezinho… - Oxidative medicine …, 2020 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease or Charcot
disease, is a fatal neurodegenerative disease that affects motor neurons (MNs) and leads to …

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 …

Protein aggregation in amyotrophic lateral sclerosis

AM Blokhuis, EJN Groen, M Koppers… - Acta …, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …

[HTML][HTML] Antisense Oligonucleotides for the Study and Treatment of ALS

BD Boros, KM Schoch, CJ Kreple, TM Miller - Neurotherapeutics, 2022 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …

Neuropathology of amyotrophic lateral sclerosis and its variants

S Saberi, JE Stauffer, DJ Schulte… - Neurologic …, 2015 - neurologic.theclinics.com
The first case reports of amyotrophic lateral sclerosis (ALS) date back to Charles Bell in
1824. 1 Although a variety of other clinical descriptions followed throughout the 1850s, 2–4 …

Genetic mutations in RNA-binding proteins and their roles in ALS

K Kapeli, FJ Martinez, GW Yeo - Human genetics, 2017 - Springer
Mutations in genes that encode RNA-binding proteins (RBPs) have emerged as critical
determinants of neurological diseases, especially motor neuron disorders such as …

Molecular and cellular mechanisms affected in ALS

L Le Gall, E Anakor, O Connolly… - Journal of personalized …, 2020 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a terminal late-onset condition characterized by the
loss of upper and lower motor neurons. Mutations in more than 30 genes are associated to …