ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
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 …

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

Physiological functions and pathobiology of TDP‐43 and FUS/TLS proteins

A Ratti, E Buratti - Journal of neurochemistry, 2016 - Wiley Online Library
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 …

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 …

Stress granules as crucibles of ALS pathogenesis

YR Li, OD King, J Shorter, AD Gitler - Journal of cell biology, 2013 - rupress.org
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 …

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 …

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

C Lagier-Tourenne, M Polymenidou, KR Hutt… - Nature …, 2012 - nature.com
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 …

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

A Sharma, AK Lyashchenko, L Lu… - Nature …, 2016 - nature.com
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 …

ALS/FTD-linked mutation in FUS suppresses intra-axonal protein synthesis and drives disease without nuclear loss-of-function of FUS

J López-Erauskin, T Tadokoro, MW Baughn, B Myers… - Neuron, 2018 - cell.com
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 …

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

CH Wu, C Fallini, N Ticozzi, PJ Keagle, PC Sapp… - Nature, 2012 - nature.com
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 …