×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.
12112163 2002
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
PCR-SSCP showed abnormality in PS-1 exon 5 among 5 AD patients and 4 AD family members without AD symptoms.
12609057 2002
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Taken together, these data indicate that the presence of a human ps1 gene, normal or with an Alzheimer's disease mutation, leads to enhanced plasticity in the mouse brain.
11927360 2002
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.
12192622 2002
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
This study reports a novel presenilin 1 (PS1 ) gene mutation in a Japanese family with Alzheimer's disease (AD ).
12686406 2003
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
12885573 2003
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).
14581682 2003
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.
15272895 2004
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
To explore the role of the mutation of presenilin-1 exon 6 in pathogenesis of Alzheimer's disease (AD ) patients.
15476169 2004
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
We now report a sporadic early-onset patient with AD , and show that this individual is a somatic mosaic for a mutation in the presenilin-1 gene, suggesting a novel molecular mechanism for AD .
15115757 2004
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Membranes from brain cortex of Alzheimer's disease patients, or from cases with presenilin 1 missense mutations, indicated no change in presenilin 1 complex mobility.
14717705 2004
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease.
15119739 2004
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations.
15192701 2004
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease.
15851849 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
15776278 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
This study is consistent with findings in sporadic Alzheimer disease of early problems with memory, visuospatial function, and particularly with executive function in PS1 mutation carriers.
16116115 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease.
16388371 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Aberrant accentuation of neurofibrillary degeneration in the hippocampus of Alzheimer's disease with amyloid precursor protein 717 and presenilin-1 gene mutations.
15946688 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Presenilin-1-dependent transcriptome changes.
15703411 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
16267640 2006
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels.
16620965 2006
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
In the current letter, we expand this observation by describing an additional 15 independent families with the Ala431Glu substitution in the PSEN1 gene and conclude that this mutation is not an uncommon cause of early-onset autosomal dominant AD in persons of Mexican origin.
16897084 2006
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism.
17158800 2006
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Wild-type presenilin 1 protects against Alzheimer disease mutation-induced amyloid pathology.
16574645 2006
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Alzheimer's Disease
0.700
GeneticVariation
LHGDN
Morphological change by overexpression of D385A dominant negative presenilin 1 in human neuroblastoma SH-SY5Y cells.
17099291 2006