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Article

A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease.

PloS one - 1 Jan 2012

Calero Olga, Bullido María J, Clarimón Jordi, Frank-García Ana, Martínez-Martín Pablo, Lleó Alberto, Rey María Jesús, Sastre Isabel, Rábano Alberto, de Pedro-Cuesta Jesús, Ferrer Isidro, Calero Miguel

Abstract excerpt

The β site APP cleaving enzyme 1 (BACE1) is the rate-limiting β-secretase enzyme in the amyloidogenic processing of APP and Aβ formation, and therefore it has a prominent role in Alzheimer's disease (AD) pathology. Recent evidence suggests that the prion protein (PrP) interacts directly with BACE1 regulating its β-secretase activity. Moreover, PrP has been proposed as the cellular receptor involved in the...

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Source

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Identifiers

PMID: 22952813
DOI: 10.1371/journal.pone.0043926
PMCID: PMC3431402

Genes

BACE1
APP
PRNP

Variants

Provenance

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A common BACE1 polymorphism is a risk factor for sporadic Creutzfeldt-Jakob disease.PMID 22952813Read ↗

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The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans.Semantic proximity Read ↗

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