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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
To test this, we isolated EVs from iPSC-derived neuronal cultures generated from an fAD patient harboring a A246E mutation to presenilin-1 and stereotactically injected these EVs into the hippocampi of wild-type C57BL/6 mice.
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31594233 |
2019 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
Generation and characterization of human induced pluripotent stem cell lines from a familial Alzheimer's disease PSEN1 A246E patient and a non-demented family member bearing wild-type PSEN1.
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30138848 |
2018 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
In this study, we examined the effect of the PS1-fAD mutation A246E on lysosomal pH and lysosomal function, and asked whether restoration of lysosomal pH could reverse some of these changes.
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24418614 |
2014 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We validated our findings in Ca(2+) imaging experiments with primary fibroblasts obtained from an FAD patient possessing mutant PS1-A246E.
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17431506 |
2007 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
Co-expression of a human presenilin-1 (PS1) transgene containing the A246E FAD mutation accelerates deposition and also favors-at least initially-accumulation of A beta(42) so that the A beta(2):A beta(40) ratio of peptides from 7- to 12-month-old APP695SWE x PS1A246E animals is significantly elevated above that observed throughout the lifetime of APP695SWE mice.
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15312963 |
2004 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
These data suggest that the FAD-linked A246E variant of PS1 leads to higher degree of LTP induction in mice.
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10078973 |
1999 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We show that transgenic mouse lines expressing either the wild-type human PS1 protein or human PS1 with the A246E FAD mutation can rescue the PS1 knockout mouse from embryonic lethality to similar degrees, indicating that the mutation does not lead to loss of PS1 function during development.
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9539133 |
1998 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We now report that both human wild-type and A246E PS1 efficiently rescue the phenotypes observed in PS1(-/-) embryos, findings consistent with the view that FAD-linked PS1 mutants retain sufficient normal function during mammalian embryonic development.
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9539132 |
1998 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
We now document that, in the brains of transgenic mice, the absolute amounts of accumulated N- and C-terminal derivatives generated from the FAD-linked PS1 variants in which Glu replaces Ala at codon 246 (A246E) or Leu replaces Met at codon 146 (M146L) accumulate to a significantly higher degree (approximately 40-50%) than the fragments derived from wild-type PS1.
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9212102 |
1997 |
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rs63750526
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0.100 |
GeneticVariation |
BEFREE |
In this report, we demonstrate that transgenic animals that coexpress a FAD-linked human PS1 variant (A246E) and a chimeric mouse/human APP harboring mutations linked to Swedish FAD kindreds (APP swe) develop numerous amyloid deposits much earlier than age-matched mice expressing APP swe and wild-type Hu PS1 or APP swe alone.
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9354339 |
1997 |