|
Dementia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
An atomic structure of human γ-secretase.
|
26280335 |
2015 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.
|
15364419 |
2004 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
|
7651536 |
1995 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
|
29175279 |
2018 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology.
|
8837617 |
1996 |
|
Mental deterioration
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
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
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
|
12370477 |
2002 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
|
26145164 |
2015 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
|
9833068 |
1998 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
|
11796781 |
2002 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
|
24121961 |
2014 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
|
24582897 |
2014 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.
|
19667325 |
2009 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
|
21501661 |
2011 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
|
11561050 |
2001 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
|
10200054 |
1998 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
|
9719376 |
1998 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
|
25394380 |
2015 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.
|
16305624 |
2006 |
|
Alzheimer disease, familial, type 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.
|
22529981 |
2012 |
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Stress-responsive MAP kinase pathways were activated in the brain of the Tg2576/PS1(P264L) AD model, and this activation was coincident with the age-dependent increase in amyloid deposition, tau phosphorylation, and loss of synaptophysin.
|
11978814 |
2002 |
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene.
|
22572737 |
2012 |
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Using a newly developed ELISA for Aβ modified at glutamate 3 with a pyroglutamate (pE3Aβ), brain pE3Aβ was characterized in human AD in an AD mouse model harboring double knock-in amyloid precursor protein (APP)-KM670/671NL and presenilin 1 (PS1)-P264L (APP/PS1-dKI) mutations, and in a second mouse model with transgenic overexpression of human APP695 with APP-KM670/671NL (Tg2576).
|
24158021 |
2014 |