Ellen Sapp

This study investigates the role of WWOX in DNA damage and somatic instability in Huntington's disease, finding that WWOX promotes DNA damage but not CAG repeat instability.

The paper uses RNAi to identify dose-dependent MMR gene modulators of somatic instability and proteome changes in HD mouse models.

The paper compares somatic CAG expansion and siRNA responses in C57BL/6 and FVB BAC-CAG HD mouse models, finding comparable expansion and MSH3-targeted siRNA efficacy.

The paper uses specific antibodies to detect mutant huntingtin fragments in HD mouse models and human brains, showing regional and neuronal differences in accumulation that correlate with vulnerability.

This study identifies early reduction and impaired trafficking of myelin-associated glycoprotein in Huntington disease mouse models, contributing to white matter degradation.

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

The paper shows that reducing mutant HTT with a zinc finger protein in HD mice prevents lipid changes in brain and plasma.

The paper detects HTT1a protein in Huntington's disease mouse brain using western blot with neo-epitope antibodies and shows that reducing MSH3 lowers HTT1a levels.

This study shows adding high concentrations of Ca2+ and Mg2+ to oligonucleotide formulations prevents acute neurotoxicity in CNS delivery without affecting efficacy.

The paper shows that di-valent siRNA reduces wild-type Htt mRNA but not mutant HTT mRNA in HD mouse models, with mutant transcripts remaining clustered in the nucleus.

This study shows that trappc9 loss-of-function causes obesity and NAFLD by disrupting dopamine transmission, which can be mitigated with dopamine receptor modulators.

This paper introduces a dual-targeting di-valent siRNA scaffold that can silence two genes simultaneously in the CNS of mice, demonstrating potent and programmable multi-gene modulation.

Silencing MSH3 in the CNS of two models of Huntington's disease using di-valent siRNA blocks disease-accelerating somatic expansion of CAG repeats.

This paper demonstrates allele-specific siRNA silencing of mutant huntingtin in CNS using SNP-based targeting in vitro and in vivo.

This study shows that reducing tau with a degrader prevents mitochondrial fragmentation and oxidative stress in ALS models.