Deanna M. Marchionini

This study shows that reducing huntingtin in the liver causes inflammation and damage, highlighting safety concerns for HTT-lowering therapies.

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.

This study investigates the role of the autophagy-lysosomal pathway in Huntington's disease, finding that autophagic flux declines due to substrate clearance deficits in later stages.

This study shows that mTOR inhibition in HD model mice improves autophagy and reduces mutant huntingtin accumulation.

This study shows that moderate global lowering of mutant Huntingtin in a HD mouse model delays some deficits but benefits diminish over time, suggesting long-term mHtt lowering may be needed for sustained benefit.

This paper develops a PET radioligand to visualize mutant huntingtin levels in the brain and assess therapeutic interventions in Huntington's disease.

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

This study identifies HAP40 as a conserved regulator of Huntingtin, showing it maintains HTT stability and modulates mutant HTT toxicity in both flies and human cells.