|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Fused in Sarcoma (FUS or TLS) are the fourth most prevalent in Western European familial amyotrophic lateral sclerosis (ALS) populations and have been associated with causing both early and very late disease onset.
|
31682085 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
This maldistribution of FUS in cortical neurons suggests a severe disturbance of messenger RNA processing, which may be a common pathogenetic mechanism of FUS-related familial amyotrophic lateral sclerosis.
|
31599037 |
2019 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in fused in sarcoma (Fus) cause familial amyotrophic lateral sclerosis (ALS) and occasionally frontotemporal dementia.
|
30273830 |
2018 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in fused in sarcoma (FUS), a DNA/RNA binding protein, are associated with familial amyotrophic lateral sclerosis (ALS).
|
28094300 |
2017 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Abnormal intracellular accumulation of the fused in sarcoma (FUS) protein is the characteristic pathological feature of cases of familial amyotrophic lateral sclerosis (ALS) caused by <i>FUS</i> mutations (ALS-<i>FUS</i>) and several uncommon disorders that may present with sporadic frontotemporal dementia (FTLD-FUS).
|
28096243 |
2017 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.
|
26823199 |
2016 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis.
|
27033831 |
2016 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aberrant cytoplasmic aggregation of FUS, which is caused by mutations primarily in the C-terminal nuclear localisation signal, is associated with 3% of cases of familial amyotrophic lateral sclerosis (ALS).
|
26403203 |
2015 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Fused in sarcoma (FUS) gene cause a subset of familial amyotrophic lateral sclerosis (ALS), a fatal motor neuron degenerative disease.
|
26123490 |
2015 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The fused in sarcoma protein forms cytoplasmic aggregates in motor neurons derived from integration-free induced pluripotent stem cells generated from a patient with familial amyotrophic lateral sclerosis carrying the FUS-P525L mutation.
|
25912081 |
2015 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in fused in sarcoma (FUS), a DNA/RNA binding protein, have been associated with familial amyotrophic lateral sclerosis (fALS), which is a fatal neurodegenerative disease that causes progressive muscular weakness and has overlapping clinical and pathologic characteristics with frontotemporal lobar degeneration.
|
25216585 |
2014 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a Japanese patient with familial amyotrophic lateral sclerosis (ALS) and a p.K510M mutation in the fused in sarcoma gene (FUS).
|
24841222 |
2014 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.
|
24439481 |
2014 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant mutations of the RNA/DNA binding protein FUS are linked to familial amyotrophic lateral sclerosis (FALS); however, it is not clear how FUS mutations cause neurodegeneration.
|
24509083 |
2014 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The search for monogenic causes has repeatedly failed until recent identification of three disease-causing mutations in FUS (fused in sarcoma), a gene previously linked to a rare forms of familial amyotrophic lateral sclerosis with frontotemporal dementia.
|
23660545 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
We suggest that ALS-FUS is caused by a selective dysfunction of FUS, while FTLD-FUS may be caused by a dysfunction of the entire FET family.
|
23557964 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in a gene coding FUS have been identified in familial amyotrophic lateral sclerosis (ALS).
|
23448665 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding fused-in-sarcoma (FUS) have been identified in a subset of patients with sporadic and familial amyotrophic lateral sclerosis (ALS).
|
23847048 |
2013 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
According to studies in European, North American, Australian, and Asian populations, FUS gene mutations occur in 0.6-20.2% of the patients with familial amyotrophic lateral sclerosis (ALS) and 0.4-2.0% of sporadic ALS cases.
|
22340366 |
2012 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the clinicopathological features of familial amyotrophic lateral sclerosis (ALS) with the fused in sarcoma (FUS) P525L mutation.
|
22980027 |
2012 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation.
|
22878663 |
2012 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Together with mutation of SOD1, TARDBP and FUS, mutations of C9ORF72 account for ~60% of familial amyotrophic lateral sclerosis in Italy.
|
22366794 |
2012 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
It is unclear whether mutations in fused in sarcoma (FUS) cause familial amyotrophic lateral sclerosis via a loss-of-function effect due to titrating FUS from the nucleus or a gain-of-function effect from cytoplasmic overabundance.
|
21949354 |
2012 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases.
|
20598774 |
2011 |
|
Amyotrophic Lateral Sclerosis, Familial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the fused in sarcoma gene have been shown to cause familial amyotrophic lateral sclerosis and fused in sarcoma-positive neuronal inclusions have subsequently been demonstrated in neuronal intermediate filament inclusion disease and atypical frontotemporal lobar degeneration with ubiquitinated inclusions.
|
21752791 |
2011 |