Jong‐Min Lee

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

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 splice modulators like branaplam reduce HTT CAG repeat expansion by affecting PMS1 expression, suggesting PMS1 as a new therapeutic target for Huntington's disease.

This study develops personalized CRISPR-Cas9 strategies to specifically inactivate the mutant BAG3 allele in MFM6 patients, demonstrating their feasibility for regenerative medicine.

The paper develops base editing strategies to convert CAG to CAA in Huntington's disease, reducing CAG repeat expansion and showing therapeutic potential.

The paper identifies molecular signatures of inflammation, energy metabolism, and vesicle biology in peripheral tissues of Huntington disease patients, suggesting their potential as biomarkers for clinical trials.

The paper identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

This study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

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.