Hans R. Waterham

KG-Bench benchmarks graph neural networks for drug repurposing using the Open Targets dataset, finding TransformerConv achieves the highest performance.

This study identifies PEX14 as a molecular link between optineurin and pexophagy, elucidating its role in recruiting autophagic machinery for peroxisome degradation.

This study identifies PEX39 as a cytosolic peroxin that facilitates PTS2-protein import by interacting with PEX7 and stabilizing its binding to cargo.

The paper uses a fibroblast-specific genome-scale model to identify metabolic imbalances in Refsum disease, highlighting amino acid metabolism changes.

This study identifies a homozygous ERAL1 mutation as the cause of Perrault syndrome, showing it disrupts mitochondrial ribosome assembly and function.