Ontology highlight
ABSTRACT:
SUBMITTER: Seuma M
PROVIDER: S-EPMC7943193 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Seuma Mireia M Faure Andre J AJ Badia Marta M Lehner Ben B Bolognesi Benedetta B
eLife 20210201
Plaques of the amyloid beta (Aß) peptide are a pathological hallmark of Alzheimer's disease (AD), the most common form of dementia. Mutations in Aß also cause familial forms of AD (fAD). Here, we use deep mutational scanning to quantify the effects of >14,000 mutations on the aggregation of Aß. The resulting genetic landscape reveals mechanistic insights into fibril nucleation, including the importance of charge and gatekeeper residues in the disordered region outside of the amyloid core in prev ...[more]