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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 …
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
Skeletal muscle in amyotrophic lateral sclerosis
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 …
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 …
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 …
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 …
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …
Neuromuscular junction dysfunction in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder characterized by
progressive degeneration of motor neurons leading to skeletal muscle denervation. Earlier …
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 …
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
Neurodegenerative diseases are characterized by progressive cell loss leading to disruption
of the structure and function of the central nervous system. Amyotrophic lateral sclerosis …
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 …
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 …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …