Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

Skeletal muscle in amyotrophic lateral sclerosis

JM Shefner, A Musaro, ST Ngo, C Lunetta, FJ Steyn… - Brain, 2023 - academic.oup.com
Amyotrophic lateral sclerosis (ALS), the major adult-onset motor neuron disease, has been
viewed almost exclusively as a disease of upper and lower motor neurons, with muscle …

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 …

The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis

PM Rodríguez Cruz, J Cossins, D Beeson… - Frontiers in molecular …, 2020 - frontiersin.org
The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

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 …

Neuromuscular junction dysfunction in amyotrophic lateral sclerosis

S Verma, S Khurana, A Vats, B Sahu, NK Ganguly… - Molecular …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by
progressive degeneration of motor neurons leading to skeletal muscle denervation. Earlier …

Efficient generation of a self-organizing neuromuscular junction model from human pluripotent stem cells

A Urzi, I Lahmann, LVN Nguyen, BR Rost… - Nature …, 2023 - nature.com
The complex neuromuscular network that controls body movements is the target of severe
diseases that result in paralysis and death. Here, we report the development of a robust and …

[HTML][HTML] Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation

E Giacomelli, BF Vahsen, EL Calder, Y Xu, J Scaber… - Cell Stem Cell, 2022 - cell.com
Neurodegenerative diseases are characterized by progressive cell loss leading to disruption
of the structure and function of the central nervous system. Amyotrophic lateral sclerosis …

[HTML][HTML] The neuromuscular junction: roles in aging and neuromuscular disease

SR Iyer, SB Shah, RM Lovering - International journal of molecular …, 2021 - mdpi.com
The neuromuscular junction (NMJ) is a specialized synapse that bridges the motor neuron
and the skeletal muscle fiber and is crucial for conversion of electrical impulses originating …

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …