The E280A Presenilin Mutation Reduces Voltage-Gated Sodium Channel Levels in Neuronal Cells.

Conclusion: Our data indicate that the FAD-linked PS1(E280A) mutation decreases Nav channel levels by partially inhibiting the PS/γ-secretase-mediated cleavage of Navβ2 in neuronal cells. © 2013 S. Karger AG, Basel. PMID: 24217025 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/24217025?dopt=Abstract

Source: Neuro-Degenerative Diseases - November 5, 2013 Category: Neurology Authors: Kim DY, Wertz MH, Gautam V, D'Avanzo C, Bhattacharyya R, Kovacs DM Tags: Neurodegener Dis Source Type: research

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