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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In familial Alzheimer's disease (FAD), three missense mutations, V642I, V642F and V642G, that co-segregate with the disease phenotype have been discovered in the 695 amino acid form of the amyloid precursor protein APP.
|
9305632 |
1997 |
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rs63750526
|
|
|
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.
|
9212102 |
1997 |
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rs63750526
|
|
|
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.
|
9354339 |
1997 |
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rs63750231
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene.
|
8945747 |
1996 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion.
|
8867023 |
1996 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695.
|
8599933 |
1996 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Absence of linkage disequilibrium at amyloid precursor protein gene locus in Japanese familial Alzheimer's disease with 717Val-->Ile mutation.
|
8121639 |
1993 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The cytoskeletal pathology of a patient with familial Alzheimer's disease (AD) associated with the probably causal amyloid precursor protein (APP) codon 717 Val----Ile mutation is described.
|
1584463 |
1992 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This mutation, which is predicted to cause the missense substitution of isoleucine for valine at codon 717 of APP, cosegregated perfectly with the FAD trait (lod score = 3.49 at theta = 0.00).
|
1520398 |
1992 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The 717Val----Ile substitution in amyloid precursor protein is associated with familial Alzheimer's disease regardless of ethnic groups.
|
1908231 |
1991 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here, we report that the expression of FAD-linked PS1 M146V mutant affects store-operated calcium channel activity (Isoc) in human neuroblastoma SK-N-SH cells.
|
23624206 |
2013 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE.
|
23792692 |
2013 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here, we have aimed to determine (i) whether this phenotype is present in heterozygous PS1 KI(M146V) mice, which reflects more accurately the PS1 FAD condition in humans and (ii) whether Abeta(1-42), which is invariably present in the PS1 FAD brain and is thought to affect neuronal cell cycle kinetics, may contribute to the abnormal cell cycle/cell death phenotype seen in PS1 KI(M146V) mice.
|
18466334 |
2008 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Specifically we find that either over-expression or FAD mutation in presenilin 1 (M146L and M146V) leads to chromosome missegregation and aneuploidy in vivo and in vitro: (1) Up to 20% of lymphocytes and neurons of FAD-PS-1 transgenic and knocking mice are aneuploid by metaphase chromosome analysis and in situ hybridization.
|
17169464 |
2008 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
To investigate the factors that drive the Abeta42/Abeta40 ratio and amyloid pathogenesis and to investigate the possible interactions between wild-type and FAD mutant PS1, which are co-expressed in transgenic animals, we expressed the PS1 M146V knock-in allele either on wild-type PS1 (PS1M146V/+) or PS1 null (PS1M146V/-) background and crossed these alleles with the Tg2576 APP transgenic mice.
|
16574645 |
2006 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
To investigate the pathogenic mechanism of PS1 mutations linked to FAD, we established inducible mouse neuroblastoma (Neuro 2a) cell lines expressing the human wild-type (wt) or mutated PS1(M146L or deltaexon 10) under the control of the Lac repressor.
|
10360683 |
1999 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Two (P117L; M146L) familial Alzheimer's disease (FAD)-causing presenilin-1 (PS1) mutations have been tested fortheir effect in stably transfected mouse neuroblastoma (N2a) cell lines.
|
10400232 |
1999 |
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rs63750306
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The presenilin 1 mutation (M146V) linked to familial Alzheimer's disease attenuates the neuronal differentiation of NTera 2 cells.
|
9535737 |
1998 |
|
rs63750306
|
|
|
0.090 |
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.
|
9212102 |
1997 |
|
rs572842823
|
|
|
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).
|
27687728 |
2016 |
|
rs572842823
|
|
|
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.
|
15312963 |
2004 |
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rs572842823
|
|
|
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.
|
11327724 |
2001 |
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rs572842823
|
|
|
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.
|
11717357 |
2001 |
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rs572842823
|
|
|
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.
|
9285791 |
1997 |
|
rs572842823
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Only the Swedish familial Alzheimer's disease mutation (K595N/M596L) strongly increases A beta production.
|
7695913 |
1995 |