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 …
RNA transport and local translation in neurodevelopmental and neurodegenerative disease
MS Fernandopulle, J Lippincott-Schwartz… - Nature …, 2021 - nature.com
Neurons decentralize protein synthesis from the cell body to support the active metabolism
of remote dendritic and axonal compartments. The neuronal RNA transport apparatus …
of remote dendritic and axonal compartments. The neuronal RNA transport apparatus …
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 …
Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
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 …
Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions
Human induced pluripotent stem cells (iPSC) hold promise for modeling diseases in
individual human genetic backgrounds and thus for develo** precision medicine. Here …
individual human genetic backgrounds and thus for develo** precision medicine. Here …
Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease
M Eshraghi, PP Karunadharma, J Blin… - Nature …, 2021 - nature.com
The polyglutamine expansion of huntingtin (mHTT) causes Huntington disease (HD) and
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …
neurodegeneration, but the mechanisms remain unclear. Here, we found that mHtt promotes …
mRNA transport, translation, and decay in adult mammalian central nervous system axons
Localized mRNA translation regulates synapse function and axon maintenance, but how
compartment-specific mRNA repertoires are regulated is largely unknown. We developed an …
compartment-specific mRNA repertoires are regulated is largely unknown. We developed an …