Erik Portelius

This study identifies chromosome 21 genes other than APP that modulate amyloid-β accumulation in Down syndrome mouse models.

The paper analyzes plasma A{beta} ratios in ADAD mutation carriers and non-carriers, finding significant differences between PSEN1 and APP carriers and associations with parental age at onset.

This study shows that mutations in the juxtamembrane cholesterol-binding site of APP reduce production of toxic Aβ40 and Aβ42 peptides and increase shorter, less toxic Aβ peptides.

The paper shows that trisomy 21 cerebral organoids exhibit AD-like pathology, which can be suppressed by BACE2 trisomy and inhibited by BACE1 inhibitors, suggesting BACE2 as an AD-suppressor gene.