Mariano Martín

This study maps the mutational landscape of SOD1 by analyzing monomer folding and dimerization, identifying protein destabilization as a key driver of ALS and uncovering potential therapeutic targets.

This study maps mutations in RIPK1 and RIPK3 to reveal how amyloid formation is optimized for necroptosis, showing conserved mechanisms across species and evolutionary constraints.

The paper experimentally quantifies amyloid nucleation for >100,000 sequences, trains an interpretable deep learning model to predict it, and reveals the model's decision-making process.

The paper investigates the amyloid-forming potential of C-terminal extensions of Bri2, identifying an incomplete amyloid motif that becomes pathogenic upon extension.

The paper improves SLiM prediction by integrating variant data and structural analysis of SAS impacts, enhancing specificity and variant classification in clinical genomics.