×
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
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
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
17197420
2007
×
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
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
GeneticVariation
disease
BEFREE
We also propose that PSEN1 mutations should be considered in FTD patients with no MAPT mutations.
16546171
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Frontotemporal dementia -like phenotypes associated with presenilin-1 mutations.
16948293
2006
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
Mutations in presenilin-1 (PSEN1 ) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17).
17071927
2006
×
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
GeneticVariation
disease
BEFREE
Interestingly, two presenilin 1 (PS1 ) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation.
15122701
2004
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
15205973
2004
×
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
Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies.
11914409
2002
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
GeneticVariation
disease
BEFREE
We conclude that the clinical features of the Kluver-Bucy syndrome and FTD can be associated with PSEN1 mutations.
12053127
2002
×
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
AlteredExpression
disease
BEFREE
Our results suggest that alternative transcription of PS1 may be associated with FTD .
11973477
2002
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
11684347
2001
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
11710891
2001
×
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
GeneticVariation
disease
UNIPROT
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
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
GeneticVariation
disease
BEFREE
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
The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.
10468510
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
10447269
1999
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
CausalMutation
disease
CLINVAR
Presenilin mutations in Alzheimer's disease.
9521418
1998