|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease.
|
30590647 |
2019 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB).
|
30674342 |
2019 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The R406W tau mutation is a unique missense mutation whose patients have been reported to exhibit Alzheimer's disease (AD)-like phenotypes rather than the more typical FTD phenotypes.
|
31543469 |
2019 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In the present study, we aimed to characterize the link between ER stress and bioenergetics defects under normal condition (human SH-SY5Y neuroblastoma cells: control cells) or under pathological AD condition [SH-SY5Y cells overexpressing either the human amyloid precursor protein (APP) or mutant tau (P301L)].
|
30683981 |
2019 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A recently identified Tau variant, p.A152T, has been reported as a risk factor for frontotemporal dementia-related disorders and Alzheimer disease.
|
29894752 |
2018 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The A152T-variant of human tau (hTau-A152T) increases the risk of Alzheimer's disease (AD) and several other tauopathies.
|
29859869 |
2018 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation.
|
29716656 |
2018 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features.
|
29370822 |
2018 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In this study, we found that aged Tg mice of both sexes expressing human tau proteins harboring a pathogenic P301L <i>MAPT</i> mutation labeled with green fluorescent protein (T40PL-GFP Tg mouse line) exhibited hyperphosphorylated tau mislocalized to the somatodentritic domain of neurons, but these mice did not develop <i>de novo</i> insoluble tau aggregates, which are characteristic of human AD and related tauopathies.
|
28986461 |
2017 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR) = 2.03; p = 0.063], but not with AD.
|
26444794 |
2016 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Here, we found that the BDNF level was reduced in the serum and brain of AD patients and P301L transgenic mice (a mouse model of tauopathy).
|
27701410 |
2016 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The present study evaluates the impact of neurosteroids belonging to the sex hormone family (progesterone, estradiol, estrone, testosterone, 3α-androstanediol) on mitochondrial dysfunction in cellular models of AD: human neuroblastoma cells (SH-SY5Y) stably transfected with constructs encoding (1) the human amyloid precursor protein (APP) resulting in overexpression of APP and Aβ, (2) wild-type tau (wtTau), and (3) mutant tau (P301L), that induces abnormal tau hyperphosphorylation.
|
26198711 |
2016 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology.
|
26333800 |
2015 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Among different MAPT mutations, the R406W mutation has been reported with a phenotype resembling Alzheimer's disease.
|
26086902 |
2015 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified.
|
23518664 |
2014 |
|
rs143624519
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These data provide both the first genetic evidence and functional studies supporting the role of MAPT p.A152T as a rare risk factor for both FTD-s and AD and the concept that rare variants can increase the risk for relatively common, complex neurodegenerative diseases, but since no clear significance threshold for rare genetic variation has been established, some caution is warranted until the findings are further replicated.
|
22556362 |
2012 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (FTDP-17), but it has been used for studying memory effects characteristic of AD in transgenic mice.
|
22561128 |
2012 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We have found that in 6-24-months-old triple transgenic Alzheimer's disease model mice (3xTg-AD) producing both Aβ(1-42) and the mutant human tau protein tau(P301L,) the dentate granule cells still had immunostainable SSTR3- and p75(NTR)-bearing cilia but they were only half the length of the immunostained cilia in the corresponding wild-type mice.
|
22995307 |
2012 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation.
|
18284428 |
2008 |
|
rs63751273
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Genetic tau mutations can cause FTDP-17, and mice overexpressing tau mutants such as P301L tau are used as AD models.
|
18431510 |
2008 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
These results suggest that R406W Tg mice exhibit changes in depression-related behavior involving serotonergic neurons and provide an animal model for investigating AD with depression.
|
16182262 |
2005 |
|
rs63751273
|
|
|
0.080 |
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 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease.
|
12414518 |
2002 |
|
rs63750424
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Therefore, these mice that exhibit a phenotype mimicking R406W FTDP-17 provide an animal model for investigating the adverse properties associated with this mutation, which might potentially recapitulate some etiological events in Alzheimer's disease.
|
12368474 |
2002 |
|
rs242557
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The proposed sensor, carried out on microfluidic chemiluminescence (CL) assay, can sensitively discriminate rs242557 hotspot-SNP, the A/G single-nucleotide variation on human chromosome associated with Alzheimer's disease, with an absolute detection limit of 0.3 fmol.
|
28340771 |
2017 |