Ramee Lee

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

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.

Modulation of huntingtin S421 phosphorylation in a Huntington's disease mouse model and its detection in nonhuman primate cerebrospinal fluid

The paper develops an ultrasensitive immunoassay to detect S421 phosphorylation of huntingtin in HD models and nonhuman primate CSF, linking it to disease progression and identifying PRKACA as a kinase involved.

Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntingtons disease pathogenesis in mice

This study shows that combining RNAi to silence MSH3 and HTT reduces huntingtin inclusions and restores gene expression in HD mice.

IKBKB reduces huntingtin aggregation by phosphorylating Serine 13 via a non-canonical IKK pathway

The paper shows IKBKB reduces mutant huntingtin aggregation by phosphorylating S13 via a non-canonical IKK pathway.

Expression analysis of Huntington disease mouse models reveals robust striatum disease signatures

The paper analyzes RNA-seq and proteomics data from Huntington disease mouse models to identify disease-specific signatures in the striatum and liver, revealing gender effects and improved proteomics analysis methods.