|
Frontotemporal Lobar Degeneration
|
0.100 |
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 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Frontotemporal dementia is a group of early onset dementia syndromes linked to underlying frontotemporal lobar degeneration (FTLD) pathology that can be classified based on the formation of abnormal protein aggregates involving tau and two RNA binding proteins, TDP-43 and FUS.
|
30355151 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that disturbed cytoskeletal function and enhanced expression of the neurodegeneration-associated Tau exon 10 might contribute to FTLD/ALS with FUS inclusions.
|
22710833 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
FUS is also a major pathologic marker for a group of less common forms of frontotemporal lobar degeneration (FTLD), which includes atypical FTLD with ubiquitinated inclusions (aFTLD-U), neuronal intermediate filament inclusion disease (NIFID) and basophilic inclusion body disease (BIBD).
|
23046583 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings provide new biological and pathological insights into the FUS protein that should help our understanding of the pathogenesis of ALS/FTLD.
|
21280085 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
The next challenge will be to confirm changes of FUS-mediated alternative splicing in patients and define their precise role in the pathophysiology of ALS and FTLD.
|
23974990 |
2013 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TARDBP and VCP give rise to FTLD-TDP, mutations in FUS to FTLD-FUS, and mutations in CHMP2B to FTLD-UPS.
|
22355793 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Phenotypic variability within the inclusion body spectrum of basophilic inclusion body disease and neuronal intermediate filament inclusion disease in frontotemporal lobar degenerations with FUS-positive inclusions.
|
22892522 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparison with the neuropathology of cases of frontotemporal lobar degeneration with FUS-ir pathology showed significant differences and suggests that FUS mutations are associated with a distinct pathobiology.
|
21604077 |
2011 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To examine FUS pathology in FTLD, we developed the first mammalian animal model expressing human FUS with pathogenic mutation and developing progressive loss of memory.
|
22833456 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recent identification of ALS-linked mutations in FUS and TDP-43 has led to a major shift in our thinking in regard to the potential molecular mechanisms of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).
|
22342159 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
FTD usually belongs to the frontotemporal lobar degeneration (FTLD) disease group, and its familial forms are dominantly inherited and linked to a group of genes relevant to frontal and temporal brain pathology, such as MAPT, GRN, C9ORF72, TARDBP, CHMP2B, VCP, and FUS.
|
29578490 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings therefore provide additional evidence that FTLD-FUS and ALS-FUS are caused by distinct disease mechanisms although both share FUS deposits as a common denominator.
|
26895297 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
No FUS mutations were detected in the patients with FTLD-ALS.
|
20124201 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
TAR DNA-binding protein 43 kDa (TDP-43) and fused in sarcoma (FUS) are RNA-binding proteins that form aggregates in ALS and FTLD, and when mutated can drive the pathogenesis of these disorders.
|
23041957 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fused in sarcoma (FUS) is an RNA binding protein that is involved in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS).
|
28842245 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to evaluate genetic variability in the FUS and TDP-43 genes, known to be mainly associated with amyotrophic lateral sclerosis (ALS), in patients with the diagnoses of frontotemporal lobar degeneration (FTLD) and corticobasal syndrome (CBS).
|
21943958 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
TDP-43 and FUS/TLS, both of which participate in several steps of RNA processing, are abnormally aggregated and mislocalized in ALS and FTLD, while the expansion in the C9orf72 pre-mRNA strongly suggests sequestration of one or more RNA binding proteins in pathologic RNA foci.
|
22444279 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Numerous reports have demonstrated by pathological and genetic analysis that FUS is associated with a variety of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and polyglutamine diseases.
|
31022909 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
The neuropathological correlate of FTD is frontotemporal lobar degeneration (FTLD), characterized by tau-, TDP-43-, and FUS-immunoreactive neuronal inclusions.
|
30774737 |
2019 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MND/ALS-associated SOD1, FUS and TARDBP gene mutations were excluded; however, further investigations revealed that all four of the cases did show a repeat expansion of C9orf72, the recently reported cause of chromosome 9-linked MND/ALS and FTLD.
|
22181065 |
2012 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To address this question, we have analyzed Tau expression in the frontal brain areas from control, Alzheimer's disease and FTLD cases, including FTLD- Tau (MAPT), FTLD-TDP (sporadic, FTLD-TDP-GRN, FTLD-TDP-C9ORF72) and sporadic FTLD-FUS, using western blot and 2D-DIGE (Two-Dimensional fluorescence Difference Gel Electrophoresis) approaches.
|
27435172 |
2016 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
Thus, to facilitate development of early disease markers and/or therapeutic targets of FTLD/ALS it is critical that the functions of FUS and its downstream pathways are unraveled.
|
29774215 |
2018 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
According to these results, FUS/TLS is not a susceptibility factor for the development of sporadic FTLD.
|
20061612 |
2010 |
|
Frontotemporal Lobar Degeneration
|
0.100 |
Biomarker
|
disease |
BEFREE |
The FTLD-FUS group includes atypical FTLD with ubiquitinated lesions (FTLD-U), Neuronal Intermediate Filament Inclusion Disease (NIFID) and Basophilic Inclusion Body Disease (BIBD).
|
24035575 |
2013 |