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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition to the wild-type peptide, two ALS-related mutants (A315T and A315E) and a non-axon-toxic mutant (G314V) were investigated to determine how mutations affect the oligomerization of TDP-43<sub>307-319</sub> and structures of toxic oligomers.
|
31430111 |
2019 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Targeting glial cannabinoid CB<sub>2</sub> receptors to delay the progression of the pathological phenotype in TDP-43 (A315T) transgenic mice, a model of amyotrophic lateral sclerosis.
|
29574689 |
2019 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Pimozide was administered every 2 days to transgenic mice bearing the ALS-linked A315T mutation on the human TAR DNA-binding protein 43 (TDP-43) gene and to mice carrying the human superoxide dismutase 1 (SOD1) gene with the ALS-linked G93A mutation.
|
29790082 |
2018 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Of 28 differentially expressed genes, seven had a ≥ 2-fold change; four were validated by immunofluorescence labelling of motor neurons in TDP-43(A315T) mice, and two of these were confirmed by immunohistochemistry in amyotrophic lateral sclerosis cases.
|
26525917 |
2016 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Using TDP-43(A315T) mice, an ALS and FTD model with marked cortical pathology, we found that hyperactive somatostatin interneurons disinhibited layer 5 pyramidal neurons (L5-PNs) and contributed to their excitotoxicity.
|
26900927 |
2016 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Both in vitro and in vivo validation assays demonstrate the interactions of Staufen1 and PP1B with dynein, and their colocalization with synaptic markers was altered as a result of two separate ALS-linked mutations: mSOD1(G93A) and TDP43(A315T).
|
26598648 |
2016 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This study examines proprioceptive sensory neurons in mice harboring mutations associated with ALS, in SOD1(G93A) and TDP43(A315T) transgenic mice.
|
26136049 |
2015 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Short-term suppression of A315T mutant human TDP-43 expression improves functional deficits in a novel inducible transgenic mouse model of FTLD-TDP and ALS.
|
26437864 |
2015 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Furthermore, the expression levels of TDP-43, ER chaperone 78 kDa glucose-regulated protein (GRP-78), and autophagy marker microtubule-associated protein 1A/1B-light chain 3 (LC3) in the skin tissues from ALS patients with TDP-43(A315T) mutation were markedly higher than those from the healthy control.
|
26327808 |
2015 |
|
rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We established murine embryonic stem cell (ESC)-based cell models that stably express the human wild-type (WT) and various ALS causing mutations of TDP-43 (A315T) and FUS (R514S, R521C and P525L).
|
26174443 |
2015 |
|
rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Careful comparison of the wild-type TDP-43 (Wt) and the three mutant TDP-43 peptides: an ALS-related mutant peptide: phosphorylated A315T mutant TDP-43 (A315T(p)) and two model peptides: A315T mutant TDP-43 (A315T), A315E mutant TDP-43 (A315E) reveals that A315T(p) has a longer core region of the β-domain than Wt.
|
23138004 |
2013 |
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rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Premature death of TDP-43 (A315T) transgenic mice due to gastrointestinal complications prior to development of full neurological symptoms of amyotrophic lateral sclerosis.
|
23317354 |
2013 |
|
rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have generated Caenorhabditis elegans and zebrafish animal models expressing mutant human TDP-43 (A315T or G348C) or FUS (S57Δ or R521H) that reflect certain aspects of ALS including motor neuron degeneration, axonal deficits, and progressive paralysis.
|
22848727 |
2012 |
|
rs80356726
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To better mimic human amyotrophic lateral sclerosis, we generated transgenic mice that exhibit moderate and ubiquitous expression of transactive response DNA-binding protein 43 species using genomic fragments that encode wild-type human transactive response DNA-binding protein 43 or familial amyotrophic lateral sclerosis-linked mutant transactive response DNA-binding protein 43 (G348C) and (A315T).
|
21752789 |
2011 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We previously developed a mouse model of ALS that exhibits adult-onset motor dysfunction; these mutant TDP-43 knock in (KI) mice heterozygously express mutant human TDP-43 (A382T or G348C).
|
26672899 |
2016 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Based on our previous finding of the p.A382T founder mutation in ALS patients with concomitant parkinsonism in the Sardinian population, we hypothesized that the same variant may underlie Parkinson's disease (PD) and/or other forms of degenerative parkinsonism on this Mediterranean island.
|
23546887 |
2013 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.
|
21418058 |
2012 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Wide phenotypic spectrum of the TARDBP gene: homozygosity of A382T mutation in a patient presenting with amyotrophic lateral sclerosis, Parkinson's disease, and frontotemporal lobar degeneration, and in neurologically healthy subject.
|
22398199 |
2012 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
A founder TARDBP mutation (p.Ala382Thr) was recently identified as the cause of ~30% of ALS cases in Sardinia, a Mediterranean genetic isolate.
|
21667065 |
2011 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD).
|
21803454 |
2011 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The TARDBP p.A382T missense mutation accounts for approximately one-third of all ALS cases in this island population.
|
21220647 |
2011 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Three apparently unrelated families with familial ALS carrying the p.Ala382Thr TARDBP missense mutation developed FTLD.
|
20697052 |
2010 |
|
rs367543041
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The c.1144G>A (p.A382T) variation was observed in seven patients, thus representing the most frequent TARDBP mutation in ALS.
|
19224587 |
2009 |
|
rs80356733
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To investigate spinal cord synaptic dysfunction, we took advantage of a zebrafish larval model and expressed either wild type human TARDBP (wtTARDBP) or the ALS-causing G348C variant (mutTARDBP).
|
31235725 |
2019 |
|
rs80356733
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We generated transgenic zebrafish lines expressing human TDP-43, either the wild-type form or the ALS-causative G348C mutation identified in a subset of ALS patients, with the transgene expression driven by an inducible heat shock promoter in order to bypass a potential early mortality.
|
30618614 |
2018 |