Seulki Kwon

This study identifies a therapeutic target, the entrapment complex, that clears toxic protein accumulation in distinct proteinopathies by disrupting a cargo receptor complex.

PFES quantifies the protein context of missense variants, enabling mechanistically transparent interpretation and reclassification of variants of uncertain significance.

The paper introduces the Genomics 2 Proteins Portal, which links genetic variants to protein sequences and structures to aid in understanding disease mechanisms and therapeutic design.

The paper characterizes proteomic and transcriptomic features of missense variants in ALS genes and identifies enriched structural and functional properties associated with pathogenicity.