|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
An atomic structure of human γ-secretase.
|
26280335 |
2015 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.
|
10090481 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.
|
20460383 |
2010 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.
|
17366635 |
2007 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile).
|
11561050 |
2001 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
|
8634712 |
1995 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
|
16959576 |
2006 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.
|
11701593 |
2001 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease.
|
30200536 |
2018 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.
|
10439444 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
|
31153663 |
2020 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
|
9833068 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
|
27930341 |
2017 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The presenilin 1 C92S mutation increases abeta 42 production.
|
11027672 |
2000 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
|
8733303 |
1996 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.
|
10208579 |
1999 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
|
30180983 |
2018 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances.
|
11796781 |
2002 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
|
7596406 |
1995 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
|
9719376 |
1998 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.
|
15122701 |
2004 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.
|
7550356 |
1995 |
|
Alzheimer disease, familial, type 3
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.
|
22461631 |
2012 |