Seung Kwak

This paper investigates the protective effect of the LIG1 K845N variant in Huntington's disease by showing it increases ligase fidelity and suppresses somatic CAG repeat expansion.

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

This study shows that reducing huntingtin protein levels decreases somatic instability in CAG-expanded loci in both mouse models and human neurons.

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.