×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid.
1302033 1992
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.
1303239 1992
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
More missense in amyloid gene.
1303275 1992
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Previous studies have identified three mutations at APP codon 717 which are pathogenic for Alzheimer disease (AD ).
1415269 1992
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
The only specific molecular defects that cause Alzheimer's disease which have been identified so far are missense mutations in the gene encoding the beta-amyloid precursor protein (beta-APP ) in certain families with an autosomal dominant form of the disease (familial Alzheimer's disease, or FAD).
1465129 1992
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.
1671712 1991
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.
1678058 1991
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
These results suggest that the Val----Ile change in the APP causes AD , regardless of ethnic background.
1908231 1991
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein .
1925564 1991
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease .
1944558 1991
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations.
8267572 1993
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Clinical characteristics in a kindred with early-onset Alzheimer's disease and their linkage to a G-->T change at position 2149 of the amyloid precursor protein gene.
8290042 1994
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
A system for studying the effect(s) of familial Alzheimer disease mutations on the processing of the beta-amyloid peptide precursor.
8476439 1993
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease .
8577393 1995
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Familial Alzheimer's disease-linked mutations at Val717 of amyloid precursor protein are specific for the increased secretion of A beta 42(43).
8886002 1996
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
9328472 1997
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.
9754958 1998
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.
10097173 1999
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
10631141 2000
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
The Alzheimer's disease beta-amyloid peptide (Abeta) is produced by excision from the type 1 integral membrane glycoprotein amyloid precursor protein (APP ) by the sequential actions of beta- and then gamma-secretases.
10656250 1999
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis.
10665499 2000
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein.
10677483 2000
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Mutations in the genes amyloid precursor protein (APP ), presenilin 1(PS1) and presenilin 2(PS2) have been found in early-onset familial forms of Alzheimer disease
10867787 2000
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
Here, we describe an aggressive form of AD caused by a novel missense mutation in APP (T714I ) directly involving gamma-secretase cleavages of APP .
11063718 2000
×
Entrez Id: 351
Gene Symbol: APP
APP
Alzheimer's Disease
0.900
GeneticVariation
UNIPROT
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.
11311152 2001