PSEN1 gene

Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia… (More)

Three decades of genetic research in Alzheimer disease (AD) have substantially broadened our understanding of the pathogenetic… (More)

The endoplasmic reticulum (ER) provides an environment that is highly optimized for oxidative protein folding. Rather than… (More)

Accumulation of the amyloid-β protein (Aβ) in the cerebral cortex is an early and invariant event in the pathogenesis of… (More)

MUTATIONS in the genes encoding amyloid-β precursor protein (APP)1 presenilin 1 (PS1)2 and presenilin 2 (PS2)3,4 are known to… (More)

To determine whether the presenilin 1 (PS1), presenilin 2 (PS2) and amyloid beta-protein precursor (APP) mutations linked to… (More)

WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence… (More)

A candidate gene for the chromosome 1 Alzheimer's disease (AD) locus was identified (STM2). The predicted amino acid sequence for… (More)

Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic linkage studies have mapped a locus (AD3… (More)

THE lin-12 and glp-1 genes of Caenorhabditis elegans are members of the lin-12 / Notch family of receptors for intercellular… (More)