Amelie Stein

The paper maps over 20,000 human protein-protein interactions mediated by short linear motifs using a peptide library screening approach.

The paper shows that blocking protein quality control degradation stabilizes DHFR indel variants, suggesting a therapeutic approach for protein misfolding diseases.

The paper establishes a framework to assess NALCN variant pathogenicity using functional and computational methods, distinguishing benign from gain- and loss-of-function variants.

The paper systematically identifies degrons in human cytosolic proteins and links them to disease mechanisms through machine learning and structural analysis.

This paper investigates how MLH1 mutations affect protein stability and interaction with PMS2, identifying regions that influence these properties and distinguishing pathogenic from benign variants.

The paper develops a yeast-based protein folding sensor to study indel variants, finding that most tolerated indels occur in specific regions and that computational tools can predict their effects.

MutationExplorer provides a webserver to visualize the energetic impacts of protein mutations on 3D structures using Rosetta and supports SNP analysis and sequence uploads.

This paper introduces SSEmb, a model that integrates protein sequence and structure to improve variant effect predictions and downstream tasks like binding site prediction.

The paper uses deep mutational scanning to show that protein degradation and toxicity are tightly correlated in ASPA variants linked to Canavans disease.

This study maps human glucokinase variant activity using a yeast complementation assay, identifying activity patterns linked to disease and providing insights for variant interpretation and therapeutic development.

The paper presents a framework for ensuring reproducibility in bio-macromolecular modeling through automated benchmarks and a test server, demonstrating its utility for Rosetta and other tools.

The paper shows that BHD-linked FLCN variants cause loss of function via proteasomal degradation and misfolding, with potential therapeutic implications for stabilization.

This paper introduces a method for high-throughput screening of protein variants using encapsulated E. coli micro-colonies and evaluates biophysical predictors for mutation effects on GFP fluorescence.