|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings suggest that FUS is the pathological protein in a significant subgroup of sporadic FTD and reinforce the concept that FTD and amyotrophic lateral sclerosis are closely related conditions.
|
19674978 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TDP-43 and FUS/TLS have striking structural and functional similarities, implicating alterations in RNA processing as a key event in ALS pathogenesis.
|
19303844 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS.
|
19251627 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The discovery of mutations in the DNA/RNA-binding proteins transactive response DNA-binding protein 43 (TDP-43) and fused in sarcoma in familial ALS and the cytosolic sequestration of TDP-43 occurring in sporadic ALS opens new avenues in ALS research and suggests that altered RNA processing may be involved in the disease pathogenesis.
|
19593125 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS.
|
19251627 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the fused in sarcoma (FUS) protein have recently been identified as a cause of familial amyotrophic lateral sclerosis (ALS).
|
19669651 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
|
19251628 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease.
|
19741216 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and FTLD, combined with the abnormal aggregation of these proteins, have initiated a shifting paradigm for the underlying pathogenesis of multiple neurodegenerative diseases.
|
20400460 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the presence and frequency of C-terminal FUS/TLS mutations in a German amyotrophic lateral sclerosis (ALS) cohort, including 133 patients with sporadic ALS (SALS) and 58 patients with FALS by sequence analysis of exons 13-15.
|
20660363 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FUS mutations were evident in 3.2% (4/124) of familial ALS, representing the second most common gene abnormality to be described in familial ALS after SOD1.
|
19965854 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.
|
20668259 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate a potential link between FUS mutations and cellular pathways involved in stress responses that may be relevant to altered motor neuron homeostasis in ALS.
|
20699327 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
This review highlights the most recent developments and future directions in this field and puts them in perspective of the novel insights into the neurodegenerative process, which have been gained from related disorders, e.g., the role of FUS in amyotrophic lateral sclerosis.
|
20415586 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.
|
21158017 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
We also focus on the recent discovery that mutations in either TDP-43 or FUS/TLS, which are both involved in DNA/RNA synthesis, are likely the cause behind many cases of ALS that are not linked to Cu,ZnSOD.
|
20687491 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The seminal discoveries of accumulation of TDP-43 in most cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein in a small subset of patients with ALS and various FTD subtypes provide clear evidence that these disorders are related.
|
20864052 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, recent advances have been made in the genetics of ALS with the identification of mutations in TAR DNA binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS), both of which have roles in RNA-processing and gene expression.
|
20406185 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In light of these findings we also analyze the potential significance of a novel association between ALS, altered autophagy, and mutations of nuclear proteins such as TAR-DNA-Binding Protein 43 and fused in sarcoma/translated in liposarcoma.
|
20406184 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine the frequency of and clinicopathologic phenotypes associated with FUS/TLS mutations in a large cohort of amyotrophic lateral sclerosis (ALS) cases from the north of England.
|
20385912 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results show that mutations in FUS are also a significant cause of familial ALS in Belgium.
|
19922450 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings extend the mutation spectrum in FUS leading to ALS and describe the first de novo mutation in FUS.
|
20232451 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fused in sarcoma gene (FUS) were recently found in patients with familial amyotrophic lateral sclerosis (ALS).
|
19967541 |
2010 |
|
Amyotrophic Lateral Sclerosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The pathogenic mechanism of the mutant FUS-mediated ALS and potential roles of FUS in non-FUS ALS remain to be investigated.
|
20517935 |
2010 |