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Article

I716F AβPP mutation associates with the deposition of oligomeric pyroglutamate amyloid-β and α-synucleinopathy with Lewy bodies.

Journal of Alzheimer's disease : JAD - 1 Jan 2015

Sieczkowski Evelyn, Milenkovic Ivan, Venkataramani Vivek, Giera Regina, Ströbel Thomas, Höftberger Romana, Liberski Paweł P, Auff Eduard, Wirths Oliver, Bayer Thomas A, Kovacs Gabor G

Abstract excerpt

Autosomal dominant familial Alzheimer's disease (AD) is associated with mutations in the AβPP, PSEN1, and PSEN2 genes. The clinical phenotype associated with AβPP mutations is mainly characterized by dementia or by strokes related to cerebral amyloid angiopathy (CAA). We present a comprehensive c...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25182745
DOI: 10.3233/JAD-141524

Genes

PSEN1
PSEN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25182745-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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