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...

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 catenin. PSEN1 has been extensively studied in neurodegeneration, and more than 300 PSEN1 mutations have been discovered to date.

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.

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 intramembranous protease that cleaves a variety of type 1 transmembrane proteins, notably including the amyloid precursor protein (APP) and Notch.

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 ...

Presenilin 1 (PSEN1) mutations are the main cause of autosomal dominant Early-onset Alzheimer Disease (EOAD). Among them, deletions of exon 9 have been reported to be associated with a phenotype of spastic paraparesis.

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 PS1 mRNA, likely due to nonsense mediated decay of the PS1 message.

Presenilin 1 (PS1) is a catalytic component of the γ-secretase complex, responsible for the intramembraneous cleavage of more than 90 type I transmembrane proteins, including Alzheimer’s disease (AD)-related amyloid precursor protein (APP).

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 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).