|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A presenilin 1 R278I mutation presenting with language impairment.
|
15534260 |
2004 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.
|
20460383 |
2010 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.
|
10439444 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
All mutations described in the PS-1 gene were found in early-onset Alzheimer's disease (AD) patients.
|
10732806 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
|
21373759 |
2011 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
|
9196071 |
1997 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.
|
22529981 |
2012 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
|
17553989 |
2007 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
An atomic structure of human γ-secretase.
|
26280335 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
|
25921538 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
|
Alzheimer disease, familial, type 3
|
0.900 |
Biomarker
|
disease |
BEFREE |
As an alternative gene therapy approach for RCC that would circumvent CAR deficiency, we employed retargeting of replication-incompetent Ad vectors and replication-competent Ad viruses to alpha(v)beta 3 and alpha(v)beta 5 integrins and to the putative Ad3 receptor.
|
12154029 |
2002 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
As families AD/A and AD/B have very similar AD phenotype our observation of two mutations in functionally different domains suggest that onset age and severity of AD may not be very helpful predictors of the location of putative S182 mutations.
|
8634711 |
1995 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
As families AD/A and AD/B have very similar AD phenotype our observation of two mutations in functionally different domains suggest that onset age and severity of AD may not be very helpful predictors of the location of putative S182 mutations.
|
8634711 |
1995 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.
|
17502474 |
2007 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.
|
16305624 |
2006 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.
|
11701593 |
2001 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.
|
24495933 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
|
27777022 |
2016 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.
|
21335660 |
2011 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
|
27793474 |
2017 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |