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Article

Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.

The Journal of biological chemistry - 7 Nov 2014

Maloney Janice A, Bainbridge Travis, Gustafson Amy, Zhang Shuo, Kyauk Roxanne, Steiner Pascal, van der Brug Marcel, Liu Yichin, Ernst James A, Watts Ryan J, Atwal Jasvinder K

Abstract excerpt

Pathogenic mutations in the amyloid precursor protein (APP) gene have been described as causing early onset familial Alzheimer disease (AD). We recently identified a rare APP variant encoding an alanine-to-threonine substitution at residue 673 (A673T) that confers protection against development of AD (Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P.,...

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Share to Amyloid beta-Peptides
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25253696
DOI: 10.1074/jbc.M114.589069
PMCID: PMC4223305

Genes

APP
BACE1

Variants

Provenance

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