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Article

A novel mutation in the predicted TMIII domain of the PSEN2 gene in an Italian pedigree with atypical Alzheimer's disease.

Journal of Alzheimer's disease : JAD - 1 Jan 2010

Piscopo Paola, Talarico Giuseppina, Crestini Alessio, Gasparini Marina, Malvezzi-Campeggi Lorenzo, Piacentini Elisa, Lenzi Gian Luigi, Bruno Giuseppe, Confaloni Annamaria

Abstract excerpt

Alzheimer's disease (AD) is characterized by accumulation of toxic amyloid-beta (Abeta) in the brain, with neuronal death, and an associated increased Abeta(42/40) ratio. Several mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid-beta precursor protein are involved in the etiolo...

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Source

Identifiers

PMID: 20164579
DOI: 10.3233/JAD-2010-1369

Genes

PSEN2
PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20164579-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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