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Article

Presenilin enhancer-2 gene: identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Nov 2011

Andreoli Virginia, Trecroci Francesca, La Russa Antonella, Cittadella Rita, Liguori Maria, Spadafora Patrizia, Caracciolo Manuela, Di Palma Gemma, Colica Carmela, Gambardella Antonio, Quattrone Aldo

Abstract excerpt

UNLABELLED: γ-Secretase proteins complex cleaves the amyloid precursor protein (APP) to generate amyloid-β (Aβ) peptides. Considerable evidence suggests that alterations in genes encoding these proteins exert their influence on the pathogenesis of familial Alzheimer's disease (FAD). Presenilin enhancer-2 gene (PEN-2) is a necessary component of the γ-Secretase complex. Recently, it has been shown that PEN-2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, High Pressure Liquid

Share to DNA Mutational Analysis

Share to Membrane Proteins

Share to Mutation, Missense

Share to Promoter Regions, Genetic

Source

Identifiers

PMID: 22055974
DOI: 10.1016/j.jalz.2011.02.010

Genes

APP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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