|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutant SOD1 overexpression led to an increase in TDP-43 modification in the detergent-insoluble fraction in the spinal cord of SOD1 mice and fALS patient.
|
29982983 |
2019 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the superoxide dismutase (SOD1) gene account for ∼15% and in the transactive response DNA binding protein (TARDBP) gene for ∼5% of familial amyotrophic lateral sclerosis (FALS) cases.
|
26630559 |
2016 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the TARDBP gene, which encodes the Tar DNA binding protein, have been shown to causes of both familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS).
|
23874513 |
2013 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Disease duration was shorter for C9ORF72 expansion carriers than for SOD1 (p<0.0001) and TARDBP (p=0.0242) carriers, other FALS (p<0.0001) and C9ORF72-negative SALS (p=0.0006).
|
22499346 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TARDBP gene are described as a cause of autosomal dominant amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD) with or without motor neuron involvement, and, recently, Parkinson's disease (PD).
|
22398199 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In Chinese populations, the estimated frequency of TARDBP mutations in SALS patients (0.73%) is higher than Japanese and lower than White populations, whereas the estimated mutation frequency in superoxide dismutase 1 (SOD1)-negative FALS patients (15.2%) is higher than both Japanese and White populations.
|
22575358 |
2012 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The clinical and neuropathologic phenotypes of FALS may differ even with the same mutation of TARDBP, encoding TDP-43.
|
21956716 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study defined the distribution and frequency of mutations of FALS in a Taiwanese Han Chinese population, which not only broadens the spectrum of the mutations causing FALS, but also further highlights the importance of FUS and TARDBP in the pathogenesis of amyotrophic lateral sclerosis (ALS).
|
20472325 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TARDBP gene are a cause of autosomal dominant amyotrophic lateral sclerosis (ALS) and of frontotemporal lobar degeneration (FTLD), but they have not been found so far in patients with Parkinson's disease (PD).
|
21667065 |
2011 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, FUS mutations accounted for 3% of our non-SOD1, non-TARDBP FALS cases and 0.6% of SALS.
|
20544928 |
2010 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In our previous study, sequencing analyses identified one variant in the 3'-untranslated region (3'-UTR) of the TARDBP gene in two affected members of one family with bvFTD and ALS and in one unrelated clinically assessed case of FALS.
|
19618195 |
2009 |
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS.
|
19450904 |
2009 |