|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Mutations in this position (R521C and R521H) are the most predominant mutations associated with amyotrophic lateral sclerosis (ALS).
|
27381509 |
2017 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A common familial ALS-associated FUS mutation (FUS-R521C) is revealed to prefer to cooperate with RBM45 than HDAC1.
|
29140459 |
2017 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Sequestration of PRMT1 and Nd1-L mRNA into ALS-linked FUS mutant R521C-positive aggregates contributes to neurite degeneration upon oxidative stress.
|
28094300 |
2017 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In human stem cell-derived motor neurons, the RNA profile associated with concomitant loss of both TAF15 and FUS resembles that observed in the presence of the ALS-associated mutation FUS R521G, but contrasts with late-stage sporadic ALS patients.
|
27378374 |
2016 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here we present the first human model of FUS-ALS using patient-derived neurons carrying endogenous FUS mutations leading to a benign (R521C) or a more severe clinical phenotype (frameshift mutation R495QfsX527).
|
26253605 |
2015 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We established murine embryonic stem cell (ESC)-based cell models that stably express the human wild-type (WT) and various ALS causing mutations of TDP-43 (A315T) and FUS (R514S, R521C and P525L).
|
26174443 |
2015 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Finally, we show that GFP-FUS(R521G), harbouring a mutation that is associated with ALS, exhibits reduced ability to accumulate at sites of UVA laser-induced DNA damage.
|
24049082 |
2014 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
To determine the role of the RNA-binding ability of FUS in ALS, we mutated FUS RNA-binding sites (F305L, F341L, F359L, F368L) and generated RNA-binding-incompetent FUS mutants with and without ALS-causing mutations (R518K or R521C).
|
23257289 |
2013 |
|
rs121909668
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The FUS R521C mutation in this Japanese family caused familial ALS with pathological features of multiple system degeneration and neuronal basophilic inclusions.
|
19967541 |
2010 |