Recent highlights from our published and ongoing funded research.
Splice Redirection of MLH3 to Inactivate the Endonuclease Domain Slows Somatic CAG Expansion
Nucleic Acids Research, March 2021
Huntington’s disease (HD) patient fibroblasts are induced to expand with up-regulation of MSH3. Splice redirection of MLH3 can significantly suppress CAG expansion in these cells. Splice redirection of MLH3 can slow CAG expansion in Huntington’s disease mice in liver and kidney.
Identification of Significant Pathways as Modifiers of Clinical Onset in Huntington’s Disease
Cell, July 2015
Genome Wide Association Studies (GWAS) identified a number of significant genetic factors that modify clinical disease onset in Huntington’s disease.
DNA Mismatch Repair Proteins are Required for CAG Repeat Instability in HD Mice
PLOS Genetics, October 2013
In Huntington’s disease mice with knock-out of DNA mismatch repair genes, Mlh1 and Mlh3 are critical for somatic CAG expansion in liver and striatum.