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 |
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 |
Remarkably, the P301L mutation, related to frontotemporal dementia FTDP-17, impairs this mechanism leading to a loss of function.
|
30664870 |
2019 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In the present study, we used mice transgenic for human tau with the frontotemporal dementia with parkinsonism-associated P301S mutation.
|
30847469 |
2019 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have previously recapitulated aspects of human FTD in mouse models by overexpressing mutant human tau in CNS neurons, including a P301S tau variant in TAU58/2 mice, characterized by early-onset and progressive behavioral deficits and FTD-like neuropathology.
|
31366728 |
2019 |
rs63750756
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The N279K mutation is one of the three mutations more prevalent in FTDP-17 cases.
|
30050413 |
2018 |
rs63751273
|
|
|
0.900 |
GeneticVariation |
BEFREE |
P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients.
|
29568692 |
2018 |
rs63750756
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
|
27082848 |
2017 |
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 |
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 |
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 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The P301S mutation linked to frontotemporal dementia causes tau aggregation and rapidly progressing motor deficits.
|
29051562 |
2017 |
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 |
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
|
|
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
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model.
|
26519432 |
2016 |
rs63751438
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Taken together, neuropathological and behavioral changes in P301S tau transgenic mice resemble features of human FTD.
|
27521751 |
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
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
|
26220942 |
2015 |
rs63750756
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Consistently, the levels of intracellular/luminal vesicle and exosome marker flotillin-1 were significantly increased in frontal and temporal cortices of PPND/FTDP-17 patients with the N279K tau mutation, events that were not seen in the occipital cortex which is the most spared cortical region in the patients.
|
26373282 |
2015 |
rs63750756
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein.
|
26143746 |
2015 |
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
|
26220942 |
2015 |
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome.
|
26269332 |
2015 |
rs63751273
|
|
T |
0.900 |
CausalMutation |
CLINVAR |
Investigating degeneration of the retina in young and aged tau P301L mice.
|
25592136 |
2015 |