|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family.
|
27311648 |
2016 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We investigated the underlying disease mechanism associated with the N279K tau mutation using PPND/FTDP-17 patient-derived induced pluripotent stem cells (iPSCs) and autopsy brains.
|
26373282 |
2015 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model.
|
17715352 |
2007 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND).
|
17639429 |
2007 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation.
|
17196872 |
2007 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism.
|
10802785 |
2000 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases.
|
30050413 |
2018 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17.
|
12492138 |
2002 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We utilized CRISPR/Cas9 genome editing in human induced pluripotent stem (iPS) cell-derived neural progenitor cells (NPCs) to repair the FTD-associated N279K MAPT mutation.
|
28256506 |
2017 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation.
|
17319286 |
2007 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
[<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT.
|
30773680 |
2019 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17.
|
21681797 |
2011 |
|
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding.
|
15695522 |
2005 |
|
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 |
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 |
Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS.
|
28268100 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
|
27859539 |
2017 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Diversity of 30-Mb haplotypes found in Barcelona and the inference of the mutation age in these populations, among other reasons, suggest that prevalence of FTD linked to P301L MAPT mutation is the result of a locally originated mutation.
|
31537395 |
2019 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Forebrain-specific over-expression of human tau(P301L), a mutation associated with frontotemporal dementia with parkinsonism linked to chromosome 17, in rTg4510 mice results in the formation of NFTs, learning and memory impairment and massive neuronal death.
|
22027994 |
2012 |
|
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia.
|
9736786 |
1998 |