|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we generated induced pluripotent stem cells (iPSC) from two familial ALS (FALS) patients with a missense mutation in the fused-in sarcoma (FUS) gene carrying the heterozygous FUS H517D mutation, and isogenic iPSCs with the homozygous FUS H517D mutation by genome editing technology.
|
26997647 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
FUS/TLS screening is recommended in patients with FALS with this phenotype.Muscle Nerve 54: 398-404, 2016.
|
26823199 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To establish a model for use in clinical applications, using episomal vectors, we generated an integration-free iPS cell line from peripheral blood mononuclear cells (PBMCs) harvested from a familial ALS (FALS) patient carrying the FUS-P525L mutation and a healthy control.
|
25912081 |
2015 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In conclusion our results revealed a higher frequency of FUS mutation carriers (7.5%) in FALS compared to literature data together with a higher presence of female gender.
|
26176978 |
2015 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
We thus propose that intranuclear aggregation of FUS triggered by a subset of pathogenic mutations is an alternative pathomechanism of FUS-related fALS diseases.
|
24280224 |
2014 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Importantly, overexpression of familial amyotropic lateral sclerosis (fALS)-linked R521G mutant FUS resulted in a significantly reduced level of MnSOD expression and activity, which is consistent with the decline in MnSOD activity observed in fibroblasts from fALS patients with the R521G mutation.
|
23834335 |
2014 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using transgenic mice expressing a common FALS-associated FUS mutation (FUS-R521C mice), we found that mutant FUS proteins formed a stable complex with WT FUS proteins and interfered with the normal interactions between FUS and histone deacetylase 1 (HDAC1).
|
24509083 |
2014 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FUS/TLS account for 8.7% (16 of 184) of FALS in Germany.
|
23217123 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fused in sarcoma (FUS) was found to be responsible for a previously identified ALS6 locus, being mutated in both FALS and SALS patients.
|
23559573 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
FALS patients with C9ORF72 expansions had more frequent association with FTD than the other FALS patients (p<0.0001 vs SOD1, p=0.04 vs TARDBP, p=0.004 vs FUS, p=0.03 vs other FALS).
|
22499346 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the Fused in sarcoma gene (FUS) were identified in familial (FALS) ALS cases and sporadic (SALS) patients.
|
21829392 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FUS gene have recently been discovered as a cause of familial amyotrophic lateral sclerosis (FALS).
|
21438137 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FUS/TLS account for 7% (4 of 58) of FALS in our German cohort.
|
20660363 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The genetic analysis was extended to the entire coding sequence of FUS in all the FALS and 293 of the SALS patients.
|
19861302 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
FUS-immunoreactive inclusions were observed in spinal anterior horn neurons in all SALS and FALS cases, except for those with SOD1 mutations.
|
20517935 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Even in Asian races, FALS with FUS mutations may have the common characteristics of early onset, rapid progress and high penetrance rate, although in patients with the S513P mutation it was late-onset.
|
20224596 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS.
|
20142531 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fused in sarcoma (FUS) gene have recently been found to cause familial amyotrophic lateral sclerosis (FALS).
|
20544928 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS.
|
19741215 |
2009 |