×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination.
12493631
2003
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD .
23489366
2013
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.
24217025
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
CTD_human
The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia .
11094121
2000
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
27793474
2017
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
GENOMICS_ENGLAND
The genetics of Alzheimer disease.
23028126
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
20634584
2010
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
9384602
1998
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
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
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Genetic testing confirmed the absence of mutations in the presenilin 1 gene in 1 patient; subsequent testing revealed the R406W tau mutation in both individuals leading to a diagnosis of frontotemporal dementia [F]FDDNP retention broadly correlated with CSF levels of t-tau and p-tau.
20683187
2011
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
24011544
2014
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
8910898
1996
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.
25471389
2015
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
27014058
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant senile dementia (TPSD; n = 5), Pick disease (n = 4), familial AD (FAD; n = 2; PSEN1 p.G206A and p.S170P ), and frontotemporal dementia with parkinsonism linked to chromosome-17 (FTDP-17; n = 2; MAPT p.P301L and IVS10 + 16).
23885714
2013
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
27100200
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.
29316780
2018
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.
11524469
2001
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.
17288597
2007
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.
9225696
1997
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
26923592
2016
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
AlteredExpression
disease
BEFREE
Our results suggest that alternative transcription of PS1 may be associated with FTD .
11997713
2002
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.
16628450
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
9189043
1997