rs572842823
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0.070 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), the APP gene harbors pathogenic variations such as the Swedish (K670N/M671L), Leuven (E682K), and A673V mutations, all of which decrease Aβ(11-40) generation, whereas the protective Icelandic mutation (A673T) increases generation of Aβ(11-40).
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27687728 |
2016 |
rs572842823
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0.070 |
GeneticVariation |
BEFREE |
These over-express human beta APP(swe), beta-amyloid precursor protein (beta-APP) containing the K670N/M671L 'Swedish' familial Alzheimer's disease (FAD) mutation.
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15312963 |
2004 |
rs572842823
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0.070 |
GeneticVariation |
BEFREE |
We report a novel gene, designated Humanin (HN) cDNA, that suppresses neuronal cell death by K595N/M596L-APP (NL-APP), a mutant causing familial Alzheimer's disease (FAD), termed Swedish mutant.
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11327724 |
2001 |
rs572842823
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0.070 |
GeneticVariation |
BEFREE |
A novel factor, termed Humanin (HN), antagonizes against neurotoxicity by various types of familial Alzheimer's disease (AD) genes [V642I and K595N/M596L (NL) mutants of amyloid precursor protein (APP), M146L-presenilin (PS) 1, and N141I-PS2] and by Abeta1-43 with clear action specificity ineffective on neurotoxicity by polyglutamine repeat Q79 or superoxide dismutase 1 mutants.
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11717357 |
2001 |
rs572842823
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0.070 |
GeneticVariation |
BEFREE |
To accurately examine the effect of missense mutations on APP metabolism and A beta production in vivo, we have introduced yeast artificial chromosomes (YACs) containing the entire approximately 400 kbp human APP gene encoding APP harboring either the asparagine for lysine and leucine for methionine FAD substitution at codons 670 and 671 (APP(K670N/M671L)), the isoleucine for valine FAD substitution at codon 717 (APP(V7171)) or a combination of both substitutions into transgenic mice.
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9285791 |
1997 |
rs572842823
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0.070 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
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7695913 |
1995 |
rs572842823
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0.070 |
GeneticVariation |
BEFREE |
The Lys595-->Asn and Met596-->Leu substitutions found in a pedigree of familial Alzheimer's disease, increased the cathepsin D-catalyzed rate of accumulation of 5.5 kDa and 10-12 kDa C286.8a-reactive fragments 5-10fold.
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7523115 |
1994 |