Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites.

doi:10.1046/j.1471-4159.1998.71041535.x

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Article

Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites.

Journal of neurochemistry - 1 Oct 1998

Sudoh S, Kawamura Y, Sato S, Wang R, Saido T C, Oyama F, Sakaki Y, Komano H, Yanagisawa K

Abstract excerpt

Mutations in the presenilin genes PS1 and PS2 cause the most common form of early-onset familial Alzheimer's disease. The influence of PS1 mutations on the generation of endogenous intracellular amyloid beta-protein (A beta) species was assessed using a highly sensitive immunoblotting technique w...

Topics

Alzheimer Disease
Amyloid beta-Peptides
Animals
Anti-Bacterial Agents
Brefeldin A
Cyclopentanes
Extracellular Space
Gene Expression Regulation
Genetic Linkage
Humans
Intracellular Fluid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Macrolides

Membrane Proteins

Mice

Monensin

Mutation

Peptide Fragments

Presenilin-1

Source

Open in PubMed

Identifiers

PMID: 9751187
DOI: 10.1046/j.1471-4159.1998.71041535.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9751187-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Presenilin 1 mutations linked to familial Alzheimer's disease increase the intracellular levels of amyloid beta-protein 1-42 and its N-terminally truncated variant(s) which are generated at distinct sites.PMID 9751187Read ↗

Implications of presenilin 1 mutations in Alzheimer's disease.Semantic proximity Read ↗

Mutant presenilin 1 increases the levels of Alzheimer amyloid beta-peptide Abeta42 in late compartments of the constitutive secretory pathway.Semantic proximity Read ↗

Intracellular site of gamma-secretase cleavage for Abeta42 generation in neuro 2a cells harbouring a presenilin 1 mutation.Semantic proximity Read ↗

Distinct Mechanisms by Mutant Presenilin 1 and 2 Leading to Increased Intracellular Levels of Amyloid β-Protein 42 in Chinese Hamster Ovary CellsSemantic proximity Read ↗

Enhanced generation of intracellular Abeta42 amyloid peptide by mutation of presenilins PS1 and PS2.Semantic proximity Read ↗

Presenilin 1 regulates the processing of beta-amyloid precursor protein C-terminal fragments and the generation of amyloid beta-protein in endoplasmic reticulum and Golgi.Semantic proximity Read ↗

Monogenic determinants of familial Alzheimer's disease: presenilin-1 mutations.Semantic proximity Read ↗

Presenilins and Alzheimer's disease: the role of A beta 42.Semantic proximity Read ↗

Elevation of beta-amyloid peptide 2-42 in sporadic and familial Alzheimer's disease and its generation in PS1 knockout cells.Semantic proximity Read ↗

Familial Alzheimer Disease-linked Presenilin 1 Variants Enhance Production of Both Aβ1–40 and Aβ1–42 Peptides That Are Only Partially Sensitive to a Potent Aspartyl Protease Transition State Inhibitor of “γ-Secretase”Semantic proximity Read ↗

Enhanced Production and Oligomerization of the 42-residue Amyloid β-Protein by Chinese Hamster Ovary Cells Stably Expressing Mutant PresenilinsSemantic proximity Read ↗

Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch.Semantic proximity Read ↗

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