Article

The pathogenicity of <i>PSEN2</i> variants is tied to Aβ production and homology to <i>PSEN1</i>

2024-06-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>INTRODUCTION</h4> Though recognized as a potential cause of Autosomal Dominant Alzheimer’s Disease, the pathogenicity of many PSEN2 variants remains uncertain. We compared Aβ production across all missense PSEN2 variants in the Alzforum database and, when possible, to corresponding PSEN1 variants. <h4>METHODS</h4> We expressed 74 PSEN2 variants, 21 of which had homologous PSEN1 varia...

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Literature Corpus work: 65c7b107-1797-545f-9dbd-74f6343ad291
DOI: 10.1101/2024.06.22.600217

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