| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.030 | GeneticVariation | BEFREE | We conclude that in the absence of another genetic or environmental 'hit' the A90V variant is not sufficient to cause the deleterious phenotypes associated with ALS and FTD, despite prominent cytoplasmic protein relocalization of TDP-43. | 28286471 | 2017 |
||||
|
0.030 | GeneticVariation | BEFREE | The p.A90V and p.G357R variations were detected in the same patient and p.R361T was present in a family with both ALS and frontotemporal dementia-ALS. | 22456481 | 2012 |
||||
|
0.030 | GeneticVariation | BEFREE | We generated multiple iPSC lines from an FTD/ALS patient with the TARDBP A90V mutation and from an unaffected family member who lacked the mutation. | 24143176 | 2013 |
||||
|
0.030 | 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 |
||||
|
0.030 | GeneticVariation | BEFREE | Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model. | 23798570 | 2013 |
||||
|
0.030 | 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 |
||||
|
0.010 | 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 |
||||
|
0.010 | GeneticVariation | BEFREE | The reduction in miR-9 expression was confirmed in human neurons derived from iPSC lines containing the more pathogenic TARDBP M337V mutation, suggesting miR-9 downregulation might be a common pathogenic event in FTD/ALS. | 24143176 | 2013 |