|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
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
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
|
26194182 |
2015 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.
|
26145164 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
|
25741723 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We found a brain-region-specific decrease in MAPT promoter methylation in PSEN1 AD patients.
|
26159201 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
|
26539891 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
|
25471389 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.
|
24773620 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Disease-related mutations among Caribbean Hispanics with familial dementia.
|
25333068 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
|
24011544 |
2014 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
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
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease.
|
24582897 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
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
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
|
24880964 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
|
24217025 |
2014 |
|
Alzheimer disease, familial, type 3
|
0.900 |
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 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
|
23843529 |
2013 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
|
23843529 |
2013 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.
|
23114514 |
2013 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of Alzheimer disease.
|
23028126 |
2012 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.
|
22766738 |
2012 |
|
Alzheimer disease, familial, type 3
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |