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Article

The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.

Neuro-degenerative diseases - 1 Jan 2014

Kim Doo Yeon, Wertz Mary H, Gautam Vivek, D'Avanzo Carla, Bhattacharyya Raja, Kovacs Dora M

Abstract excerpt

BACKGROUND: Familial Alzheimer's disease (FAD) mutations in presenilin (PS) modulate PS/γ-secretase activity and therefore contribute to AD pathogenesis. Previously, we found that PS/γ-secretase cleaves voltage-gated sodium channel β2-subunits (Navβ2), releases the intracellular domain of Navβ2 (β2-ICD), and thereby, increases intracellular sodium channel α-subunit Nav1.1 levels. Here, we tested whether...

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Identifiers

PMID: 24217025
DOI: 10.1159/000354669
PMCID: PMC3940070

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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