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Article

Sequence analyses of presenilin mutations linked to familial Alzheimer's disease.

Cell stress & chaperones - 1 Dec 2008

Kim Sun Don, Kim Jinoh

Abstract excerpt

Familial Alzheimer's disease (FAD)-linked presenilin (PS) mutations show gain-of-toxic-function characteristics. These FAD PS mutations are scattered throughout the PS molecule, reminiscent of the distribution of cystic fibrosis transmembrane conductance regulator and p53 mutations. Because of the scattered distribution of PS mutations, it is difficult to infer mechanistic insights about how these mutations cause...

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Identifiers

PMID: 18491041
DOI: 10.1007/s12192-008-0046-0
PMCID: PMC2673935

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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