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 …
Liquid-liquid phase separation of TDP-43 and FUS in physiology and pathology of neurodegenerative diseases
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 …
Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins
The multiple roles played by RNA binding proteins in neurodegeneration have become
apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in …
apparent following the discovery of TAR DNA binding protein 43 kDa (TDP‐43) and fused in …
Genetics of amyotrophic lateral sclerosis: A review
S Mathis, C Goizet, A Soulages, JM Vallat… - Journal of the …, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways,
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …
Protein aggregation in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have …
Dendritic spines: the locus of structural and functional plasticity
The introduction of high-resolution time lapse imaging and molecular biological tools has
changed dramatically the rate of progress towards the understanding of the complex …
changed dramatically the rate of progress towards the understanding of the complex …
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
Prions are self-templating protein conformers that are naturally transmitted between
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …
individuals and promote phenotypic change. In yeast, prion-encoded phenotypes can be …
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 …
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
Abnormal intracellular protein aggregates comprise a key characteristic in most
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …
neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and …
Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons
Defects in DNA repair have been extensively linked to neurodegenerative diseases, but the
exact mechanisms remain poorly understood. We found that FUS, an RNA/DNA-binding …
exact mechanisms remain poorly understood. We found that FUS, an RNA/DNA-binding …