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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene.
|
30851551 |
2019 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified.
|
30598257 |
2019 |
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rs63750264
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Further, overexpression of the SUMO E2 enzyme ubc9 along with SUMO-1 results in decreased levels of Abeta aggregates in cells transfected with the familial Alzheimer's disease-associated V642F mutant APP, indicating the potential of up-regulating activity of the cellular sumoylation machinery as an approach against Alzheimer's disease.
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18675254 |
2008 |
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rs63750264
|
|
|
0.100 |
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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rs63750264
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|
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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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
|
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|
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
|
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|
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 |