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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 …
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
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 …
The changing scene of amyotrophic lateral sclerosis
W Robberecht, T Philips - Nature Reviews Neuroscience, 2013 - nature.com
Several recent breakthroughs have provided notable insights into the pathogenesis of
amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this …
amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this …
Stress granules as crucibles of ALS pathogenesis
Amyotrophic lateral sclerosis (ALS) is a fatal human neurodegenerative disease affecting
primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the …
primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the …
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 …
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved
in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We found that FUS/TLS …
in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We found that FUS/TLS …
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function
Mutations in FUS cause amyotrophic lateral sclerosis (ALS), including some of the most
aggressive, juvenile-onset forms of the disease. FUS loss-of-function and toxic gain-of …
aggressive, juvenile-onset forms of the disease. FUS loss-of-function and toxic gain-of …
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 …
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting
from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a …
from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a …