Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Update on genetics of amyotrophic lateral sclerosis

D Brenner, A Freischmidt - Current Opinion in Neurology, 2022 - journals.lww.com
The genetic and molecular basis of ALS is increasingly examined on single-cell resolution.
In the past 2 years, the understanding of the downstream mechanisms of several ALS genes …

Genetic variation associated with condensate dysregulation in disease

SF Banani, LK Afeyan, SW Hawken, JE Henninger… - Developmental cell, 2022 - cell.com
A multitude of cellular processes involve biomolecular condensates, which has led to the
suggestion that diverse pathogenic mutations may dysregulate condensates. Although proof …

Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy

H Wang, LP Guan, M Deng - Frontiers in neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …

Amyotrophic lateral sclerosis: molecular mechanisms, biomarkers, and therapeutic strategies

X Yang, Y Ji, W Wang, L Zhang, Z Chen, M Yu, Y Shen… - Antioxidants, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with the progressive
loss of motor neurons, leading to a fatal paralysis. According to whether there is a family …

Emerging trends in the field of inflammation and proteinopathy in ALS/FTD spectrum disorder

F De Marchi, T Franjkic, P Schito, T Russo, J Nimac… - Biomedicines, 2023 - mdpi.com
Proteinopathy and neuroinflammation are two main hallmarks of neurodegenerative
diseases. They also represent rare common events in an exceptionally broad landscape of …

Annexin animal models—from fundamental principles to translational research

T Grewal, C Rentero, C Enrich, M Wahba… - International Journal of …, 2021 - mdpi.com
Routine manipulation of the mouse genome has become a landmark in biomedical
research. Traits that are only associated with advanced developmental stages can now be …

Nicotinic acetylcholine receptors: Key targets for attenuating neurodegenerative diseases

LJ Bye, RK Finol-Urdaneta, HS Tae… - The International Journal of …, 2023 - Elsevier
Nicotinic acetylcholine receptors (nAChRs) are master regulators of immune functions via
the cholinergic anti-inflammatory pathway and are expressed in microglia, the brain's …

Emerging roles for phase separation of RNA-binding proteins in cellular pathology of ALS

K Milicevic, B Rankovic, PR Andjus… - Frontiers in Cell and …, 2022 - frontiersin.org
Liquid-liquid phase separation (LLPS) is emerging as a major principle for the mesoscale
organization of proteins, RNAs, and membrane-bound organelles into biomolecular …

Aberrant stress granule dynamics and aggrephagy in ALS pathogenesis

Y Zhang, J Gu, Q Sun - Cells, 2021 - mdpi.com
Stress granules are conserved cytosolic ribonucleoprotein (RNP) compartments that
undergo dynamic assembly and disassembly by phase separation in response to stressful …