Article

Functional variations in gamma-secretase activity are critical determinants of the clinical, biomarker, and cognitive progression of autosomal dominant Alzheimer’s disease

2023-07-05

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The balance between production, clearance, and toxicity of Aβ peptides is central to Alzheimer’s disease (AD) pathobiology. Though highly variable in terms of age at symptom onset (AAO), hundreds of variants in PSEN1 cause autosomal dominant forms of AD (ADAD) with nearly complete penetrance. PSEN1 forms the catalytic core of the γ-secretase complex and thereby directly med...

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Literature Corpus work: 05d3856d-1007-5211-9c3d-d479759c5587
DOI: 10.1101/2023.07.04.547688

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