The −48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Aβ load in brain

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

1998 • 1,786 citations

Visualization of Aβ42(43) and Aβ40 in senile plaques with end-specific Aβ monoclonals: Evidence that an initially deposited species is Aβ42(43)

1994 • 1,700 citations

Amyloid, the presenilins and Alzheimer's disease

1997 • 1,370 citations

Photoactivated γ-secretase inhibitors directed to the active site covalently label presenilin 1

2000 • 861 citations

The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology

1996 • 478 citations

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1998 • 431 citations

The presenilins and Alzheimer's disease

1997 • 364 citations

Effects of PS1 Deficiency on Membrane Protein Trafficking in Neurons

1998 • 356 citations

A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia

1998 • 287 citations

Exploring the Etiology of Alzheimer Disease Using Molecular Genetics

1997 • 260 citations

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease

1996 • 244 citations

Alzheimer Presenilins in the Nuclear Membrane, Interphase Kinetochores, and Centrosomes Suggest a Role in Chromosome Segregation

1997 • 219 citations

Pronounced impact of Th1/E47cs mutation compared with -491 AT mutation on neural APOE gene expression and risk of developing Alzheimer's disease

1998 • 135 citations

Enhancement of amyloid β 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease

1999 • 123 citations

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

2000 • 95 citations

Transcriptional regulation of Alzheimer's disease genes: implications for susceptibility

2000 • 85 citations

Regulation of Apoptosis by Presenilin 1

1998 • 61 citations

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample

1999 • 51 citations

Genetic variability at the amyloid-β precursor protein locus may contribute to the risk of late-onset Alzheimer's disease

1999 • 40 citations

An intronic polymorphism in the presenilin-1 gene does not influence the amount or molecular form of the amyloid β protein deposited in Alzheimer's disease

1997 • 15 citations

Association study between a promoter polymorphism in the presenilin 1 gene and late-onset Alzheimer's disease

2000 • 2 citations