rs63751273
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Alzheimer's Disease
|
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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.
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26198711 |
2016 |
rs63751273
|
|
Alzheimer's Disease
|
|
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.
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22561128 |
2012 |
rs63751273
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Alzheimer's Disease
|
|
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.
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12975285 |
2003 |
rs63751273
|
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Alzheimer's Disease
|
|
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)].
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30683981 |
2019 |
rs63751273
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|
Alzheimer's Disease
|
|
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.
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18431510 |
2008 |
rs63751273
|
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Alzheimer's Disease
|
|
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.
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28986461 |
2017 |
rs63751273
|
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Alzheimer's Disease
|
|
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
|
|
Alzheimer's Disease
|
|
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.
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22995307 |
2012 |