The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1

Abstract excerpt

INTRODUCTION: Though recognized as a potential cause of autosomal dominant Alzheimer's disease, the pathogenicity of many PSEN2 variants remains uncertain. We compared amyloid beta (Aβ) production across all missense PSEN2 variants in the AlzForum database and, when possible, to corresponding PSEN1 variants. METHODS: We expressed 74 PSEN2 variants, 21 of which had known, homologous PSEN1 pathogenic variants with...