|
rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Importantly, similar perturbations in these factors were also consistent in motor neurons differentiated from an ALS patient-derived induced pluripotent stem cell (iPSC) line with a FUS-P525L mutation, as well as in postmortem spinal cord tissue of sporadic ALS patients with FUS pathology.
|
31801573 |
2019 |
|
rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To explore how FUS mutations impinge on motor neuron-specific RNA-based circuitries, we performed transcriptome profiling of small and long RNAs of motor neurons (MNs) derived from mouse embryonic stem cells carrying a FUS-P517L knock-in mutation, which is equivalent to human FUS-P525L, associated with a severe and juvenile-onset form of ALS.
|
29430619 |
2018 |
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rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We show that in fibroblasts of FUS P525L mutation carriers, FUS mislocalized to the cytoplasm where it redistributed into stress granules with likely a dose effect, i.e. a higher number of cells with granules, which persist longer, than in controls and ALS cases.
|
29035885 |
2017 |
|
rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we identified protein arginine methyltransferase 1 (PRMT1) as a protein that more avidly associates with ALS-linked FUS-R521C than with FUS-WT (wild type) or FUS-P525L using co-immunoprecipitation and LC-MS analysis.
|
28094300 |
2017 |
|
rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In our genetic screening, Pink1 and Park genes were identified as modifiers of neurodegeneration phenotypes induced by wild type (Wt) or ALS-associated P525L-mutant human FUS.
|
27794540 |
2016 |
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rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ADAR2 deficiency can occur in ALS patients with a FUS(P525L) mutation and is unrelated to the presence of FUS-positive inclusions.
|
27343041 |
2016 |
|
rs886041390
|
|
|
0.100 |
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 |
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rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, we successfully differentiated ALS patient-specific iPS cells into MNs and subsequently detected cytoplasmic mislocalization and formation of FUS protein aggregates in MNs due to the FUS-P525L mutation.
|
25912081 |
2015 |
|
rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement.
|
22980027 |
2012 |
|
rs886041390
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Expression of either wild type or ALS-associated R524S or P525L mutant FUS in yeast cells led to formation of aggregates and cytotoxicity, with the two ALS mutants showing increased cytotoxicity.
|
21327870 |
2011 |