This family demonstrated linkage to the PS1 region of chromosome 14, and analysis for PS1 mutations by RT–PCR and immunoblot demonstrated heterozygous deletion of exon 9, which has been shown to...

Sep 27, 2002 · We studied effects of the familial Alzheimer's disease presenilin 1 (PS1) exon 9 deletion (PS1-DeltaE9) mutation on basal and carbachol-stimulated phosphoinositide (PI) hydrolysis and intracellular Ca (2+) concentrations ( [Ca (2+)] (i)) in human SH-SY5Y neuroblastoma cells.

Oct 8, 2019 · The PSEN1 sequence encodes human presenilin-1 lacking exon 9 (dE9), which therefore models AD-associated mutations in PSEN1 resulting in exclusion of exon 9, variously known as ΔE9, dE9, deltaE9, Δ9, or delE9. Expression of both genes was directed to the CNS with the mouse prion protein promoter.

An AD-associated mutation within the PS1 gene deletes exon 9 (PS1Δexon9) due to a splicing error and results in the accumulation of the uncleaved full-length protein. We now demonstrate the unexpected finding that the pathological activity of PS1Δexon9 is independent of its lack to undergo proteolytic processing, but is rather due to a point ...

Nov 27, 2013 · Presenilin 1 (PS1) is the catalytic core of γ-secretase, which cleaves type 1 transmembrane proteins, including the amyloid precursor protein (APP). PS1 also has γ-secretase-independent functions, and dominant PS1 missense mutations are the most common cause of familial Alzheimer's disease (FAD).

Mutations in the presenilin-1 (PS1) and presenilin-2 (PS2) genes account for the majority of early-onset familial Alzheimer's disease cases. Recent studies suggest that presenilin gene mutations predispose cells to apoptosis by mechanisms involving altered …

Dec 1, 1999 · Mutations in the presenilin-1 (PS1) and presenilin-2 (PS2) genes account for the majority of early-onset familial Alzheimer's disease cases. Recent studies suggest that presenilin gene mutations predispose cells to apoptosis by mechanisms involving altered calcium homeostasis and oxidative damage.

This family demonstrated link-age to the PS1 region of chromosome 14, and analysis for PS1 mutations by RT–PCR and immunoblot demonstrated heterozygous deletion of exon 9, which has been shown to...

Nov 1, 1999 · In a fourth pedigree, a novel PS-1 mutation was identified in exon 7 (M233T), which is homologous to a pathogenic PS-2 mutation (M239V), and is characterized by a very early average age of...

Nov 26, 2015 · The presenilin 1 (PSEN1) L271V mutation causes early-onset familial Alzheimer’s disease by disrupting the alternative splicing of the PSEN1 gene, producing some transcripts harboring the L271V point mutation and other transcripts lacking exon 8 (PS1 ∆exon8).