Missense mutations in the human presenilin-1 (PS1) gene, which is found on chromosome
14, cause early-onset familial Alzheimer's disease (FAD). FAD-linked PS1 variants alter …

Abstract Presenilin 1 (PS1), a polytopic membrane protein, has a critical role in the trafficking
and proteolysis of a selected set of transmembrane proteins. The vast majority of individuals …

Recent studies have shown independently that presenilin-1 (PS1) null mutants and familial
Alzheimer's disease (FAD)-linked mutants should both down-regulate signaling of the …

Mutations in the presenilin‐1 (PS1) gene cause early onset familial Alzheimer's disease
(FAD) by a mechanism believed to involve perturbed endoplasmic reticulum (ER) function …

The pathogenic mechanism linking presenilin-1 (PS-1) gene mutations to familial
Alzheimer's disease (FAD) is uncertain, but has been proposed to include increased …

An alternative spliced form of the presinilin 2 (PS2) gene (PS2V) lacking exon 5 has
previously been reported to be expressed in human brains in sporadic Alzheimer's disease …

Mutations in presenilin 1 (PS1) lead to dominant inheritance of early onset familial
Alzheimer disease (FAD). These mutations are known to alter the γ-secretase cleavage of …

Excitotoxicity, a form of neuronal injury in which excessive activation of glutamate receptors
results in cellular calcium overload 1, 2, has been implicated in the pathogenesis of …

Mutations in the gene encoding presenilin 1 (PS1) cause the most aggressive form of early-
onset familial Alzheimer disease. In addition to its well established role in Aβ production and …

Mutations in the presenilin-1 (PS1) gene are associated with Alzheimer's disease and cause
increased secretion of the neurotoxic amyloid-β peptide (Aβ). Critical intramembraneous …