ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
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 …
Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins
Mislocalization of the predominantly nuclear RNA/DNA binding protein, TDP-43, occurs in
motor neurons of~ 95% of amyotrophic lateral sclerosis (ALS) patients, but the contribution …
motor neurons of~ 95% of amyotrophic lateral sclerosis (ALS) patients, but the contribution …
ALS/FTD-linked mutation in FUS suppresses intra-axonal protein synthesis and drives disease without nuclear loss-of-function of FUS
Through the generation of humanized FUS mice expressing full-length human FUS, we
identify that when expressed at near endogenous murine FUS levels, both wild-type and …
identify that when expressed at near endogenous murine FUS levels, both wild-type and …
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 …
Energy metabolism in ALS: an underappreciated opportunity?
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive and fatal
neurodegenerative disorder that primarily affects motor neurons. Despite our increased …
neurodegenerative disorder that primarily affects motor neurons. Despite our increased …
Motor neuron susceptibility in ALS/FTD
AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …
CNS glucose metabolism in Amyotrophic Lateral Sclerosis: a therapeutic target?
Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disorder
primarily characterized by selective degeneration of both the upper motor neurons in the …
primarily characterized by selective degeneration of both the upper motor neurons in the …
The role of RNA binding proteins for local mRNA translation: implications in neurological disorders
MP Thelen, MJ Kye - Frontiers in molecular biosciences, 2020 - frontiersin.org
As neurons are one of the most highly polarized cells in our body, they require sophisticated
cellular mechanisms to maintain protein homeostasis in their subcellular compartments such …
cellular mechanisms to maintain protein homeostasis in their subcellular compartments such …
Synaptic FUS accumulation triggers early misregulation of synaptic RNAs in a mouse model of ALS
S Sahadevan, KM Hembach, E Tantardini… - Nature …, 2021 - nature.com
Mutations disrupting the nuclear localization of the RNA-binding protein FUS characterize a
subset of amyotrophic lateral sclerosis patients (ALS-FUS). FUS regulates nuclear RNAs …
subset of amyotrophic lateral sclerosis patients (ALS-FUS). FUS regulates nuclear RNAs …