×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
30200536
2018
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
30180983
2018
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.
29175279
2018
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1.
29466804
2018
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.
29404783
2018
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
Biomarker
GENOMICS_ENGLAND
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
28664294
2017
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
27073747
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease.
26549787
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
An atomic structure of human γ-secretase.
26280335
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
25394380
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
26145164
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
Biomarker
GENOMICS_ENGLAND
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
26539891
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.
24495933
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
24582897
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
23843529
2013
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.
22529981
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
Biomarker
GENOMICS_ENGLAND
The genetics of Alzheimer disease.
23028126
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
Biomarker
GENOMICS_ENGLAND
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
22503161
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
22461631
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Novel presenilin-1 Y159F sequence variant associated with early-onset Alzheimer's disease.
23123781
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
22503161
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease.
21335660
2011
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.900
GeneticVariation
UNIPROT
A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.
21501661
2011