Mireia Seuma

Massively parallel genetic perturbation reveals the energetic architecture of an amyloid beta nucleation reaction

The paper uses genetic perturbation and machine learning to analyze the energetics of amyloid beta nucleation, revealing its genetic architecture and transition state structure.

An atlas of amyloid aggregation: the impact of substitutions, insertions, deletions and truncations on amyloid beta fibril nucleation

The paper creates an atlas of amyloid beta fibril nucleation effects caused by various mutations, showing that non-substitution variants also significantly impact aggregation.

The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer's disease mutations

The paper quantifies the effects of mutations on amyloid beta fibril nucleation using deep mutational scanning and identifies key residues that prevent nucleation, validating a cell-based assay for familial Alzheimer's disease mutations.

The mutational landscape of a prion-like domain

This study systematically mutates the prion-like domain of TDP-43 to determine how sequence changes affect cellular toxicity and aggregation, finding that increased aggregation reduces toxicity.