|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion.
|
26567742 |
2016 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The three individuals with familial history of early onset FTD and tau-positive pathology carried the P301L mutation in the MAPT gene.
|
18357425 |
2008 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Their formation has been reproduced in transgenic mice, which express the FTDP-17-associated mutation P301L of tau.
|
16879631 |
2006 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Then, we investigated if an altered tau, such as the P301L mutated protein associated with frontotemporal dementia, could produce nuclear pathology.
|
18583940 |
2008 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16).
|
23885714 |
2013 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Transgenic mice expressing the FTDP-17 mutation P301L of tau recapitulate key features of the human pathology, that is, tau proteins aggregate and neurofibrillary tangles begin to appear in the amygdala at 6 months of age.
|
15056457 |
2004 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Twenty-six patients with FTD (9 with tau mutations 7 P301L and 2 G272V), 18 patients with Alzheimer disease (AD), and 13 nondemented controls.
|
12975285 |
2003 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms.
|
17764851 |
2007 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD.
|
11598310 |
2001 |
|
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient.
|
27439681 |
2016 |