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 …

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 …

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) …

Mutations in the PSEN1 gene, encoding presenilin-1 (PS1), are the most common cause of familial Alzheimer’s disease (FAD). PS1 functions as the catalytic subunit of γ-secretase, an …

Nov 11, 2013 · We found that the wt/null line exhibited decreased PS1 mRNA to ca. 50% of normal (Figure 1B), which confirmed that the nucleotide insertion in exon 9 results in loss of …

Apr 7, 2025 · Like KI NA mice (Figure 1B), an M146 V KI substitution generated a chimeric PS1 gene carrying the familial human AD PS1 mutation on exon 5. Furthermore, to humanize exon …

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 …

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 …

Mar 19, 1999 · 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 …

Presenilin 1 (PSEN1) is a part of the gamma secretase complex with several interacting substrates, including amyloid precursor protein (APP), Notch, adhesion proteins and beta …