GeneticsProceedings of the National Academy of SciencesPeer-reviewed
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion
Eunhye Lee, Wonju Kim, David H. Beier…·Ihn Sik Seong
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.
DOI 10.1073/pnas.2518854123