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Article

Monogenic determinants of familial Alzheimer's disease: presenilin-1 mutations.

Cellular and molecular life sciences : CMLS - 1 Sept 1998

Kovacs D M, Tanzi R E

Abstract excerpt

Presenilin-1 (PS1) mutations account for the greatest portion of early onset familial Alzheimer's disease (FAD) cases. The exact cellular function of PS1 is not known. To date, PS1 mutations have been shown to alter two potential biological roles of the protein, either of which could make neurons more susceptible to neurodegeneration. First, PS1 mutations result in elevated A beta 42/A beta 40 ratios in plasma of...

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Identifiers

PMID: 9791532
DOI: 10.1007/s000180050219
PMCID: PMC11147232

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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.

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