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Article

Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal of biological chemistry - 24 Jun 2011

Nelson Omar, Supnet Charlene, Tolia Alexandra, Horré Katrien, De Strooper Bart, Bezprozvanny Ilya

Abstract excerpt

Missense mutations in presenilin 1 (PS1) and presenilin 2 (PS2) proteins are a major cause of familial Alzheimer disease. Presenilins are proteins with nine transmembrane (TM) domains that function as catalytic subunits of the γ-secretase complex responsible for the cleavage of the amyloid precursor protein and other type I transmembrane proteins. The water-filled cavity within presenilin is necessary to mediate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21531718
DOI: 10.1074/jbc.M111.243063
PMCID: PMC3121381

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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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