PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease
Zachariah L. McLean, Dadi Gao, Kevin Correia, Jennie C. L. Roy, Shota Shibata, Iris N. Farnum, Zoe Valdepenas-Mellor, Marina V. Kovalenko, Manasa Rapuru, Elisabetta Morini, Jayla Ruliera, Tammy Gillis, Diane E. Lucente, Benjamin P. Kleinstiver, Jong‐Min Lee, , James F. Gusella
This study shows splice modulators like branaplam reduce HTT CAG repeat expansion by affecting PMS1 expression, suggesting PMS1 as a new therapeutic target for Huntington's disease.
Nature Communications · Apr 12, 2024Peer-reviewedGenetics