Sydney R. Coffey

This study investigates how different HTT-lowering therapies affect somatic instability in HD mice, finding that transcriptional repression and CAG repeat binding reduce SI without lowering HTT levels.

The paper identifies altered huntingtin-chromatin interactions in HD mouse models, linking them to transcriptional and epigenetic changes in striatal tissue.

This study uses single-nucleus RNA-seq to analyze striatal cell types in a Huntington’s disease mouse model, revealing dysregulated gene expression and cell identity loss across multiple cell types.

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

This study shows that reducing huntingtin in peripheral organs of HD mice does not improve central nervous system disease signs.

This study shows that B6.HttQ111/+ mice exhibit early transcriptional and proteostatic deficits before synapse loss and neurodegeneration in HD.

The paper builds genome-scale transcriptional regulatory networks for mouse and human striatum, identifying SMAD3 as a key regulator in Huntington’s disease.