×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.
20145736
2010
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
22461631
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.
20484632
2010
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.
17545141
2007
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
27206484
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
25174650
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
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
0.800
CausalMutation
disease
CLINVAR
Presenilin/γ-secretase regulates neurexin processing at synapses.
21559374
2011
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
15776278
2005
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
8634712
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Disease-related mutations among Caribbean Hispanics with familial dementia.
25333068
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
21373759
2011
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
26194182
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
24773620
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
23843529
2013
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.
9680315
1997
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.
22766738
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.
24418614
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
17553989
2007
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
7596406
1995
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.
16897084
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
18797263
2008
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
18580586
2008
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Presenilin mutations in Alzheimer's disease.
9521418
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
27777022
2016