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Article

Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.

Nature genetics - 1 Mar 1994

Felsenstein K M, Hunihan L W, Roberts S B

Abstract excerpt

Mutations within the beta-amyloid precursor protein gene cosegregate with the early-onset form of familial Alzheimer's Disease (FAD). It is not known how these mutations result in disease; however, one early-onset AD mutation in a Swedish kindred increases potentially amyloidogenic fragments and beta-protein production in cells expressing the mutant beta-APP. Using a novel recombinant reporter system we found a...

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Source

Identifiers

PMID: 8012386
DOI: 10.1038/ng0394-251

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Altered cleavage and secretion of a recombinant beta-APP bearing the Swedish familial Alzheimer's disease mutation.PMID 8012386Read ↗

The Swedish mutation causes early-onset Alzheimer's disease by beta-secretase cleavage within the secretory pathway.Semantic proximity Read ↗

Mutations associated with a locus for familial Alzheimer's disease result in alternative processing of amyloid beta-protein precursor.Semantic proximity Read ↗

Excessive production of amyloid beta-protein by peripheral cells of symptomatic and presymptomatic patients carrying the Swedish familial Alzheimer disease mutation.Semantic proximity Read ↗

Enhanced amyloidogenic processing of the beta-amyloid precursor protein in gene-targeted mice bearing the Swedish familial Alzheimer's disease mutations and a "humanized" Abeta sequence.Semantic proximity Read ↗

Altered processing of a mutant amyloid precursor protein in neuronal and endothelial cells.Semantic proximity Read ↗

Decreased alpha-secretase-cleaved amyloid precursor protein as a diagnostic marker for Alzheimer's disease.Semantic proximity Read ↗

Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.Semantic proximity Read ↗

Specific Mutations near the Amyloid Precursor Protein Cleavage Site Increase γ-Secretase Sensitivity and Modulate Amyloid-β Production.Semantic proximity Read ↗

Metabolism of the "Swedish" amyloid precursor protein variant in neuro2a (N2a) cells. Evidence that cleavage at the "beta-secretase" site occurs in the golgi apparatus.Semantic proximity Read ↗

Release of amino-terminal fragments from amyloid precursor protein reporter and mutated derivatives in cultured cells.Semantic proximity Read ↗

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.Semantic proximity Read ↗

Reversal of the Swedish familial Alzheimer's disease mutant phenotype in cultured cells treated with phorbol 12,13-dibutyrate.Semantic proximity Read ↗

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