We are excited to announce that the research by Dr. Michele Jacob and her team at Tufts University, funded by CTNNB1 Connect & Cure and the NIH, has officially been published by the EMBO Press!
Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome: https://www.embopress.org/doi/full/10.1038/s44321-024-00110-5
Key Takeaways from the publication:
– The Jacob Lab generated a CTNNB1 germline heterozygous mouse line that displays cognitive and motor deficits, resembling key features of CTNNB1 syndrome in humans
– Their proprietary small molecule drug significantly normalizes Beta-Catenin levels and corrects both cognitive and physical deficits in the CTNNB1 mouse model
– In wild-type mice (mice NOT affected by CTNNB1 syndrome), the drug caused no significant changes in cognitive performance nor in Beta-Catenin protein levels in the hippocampus, which is important when it comes to the safety of this treatment
Being published is very important for the Tufts team and our CTNNB1 community’s hopes for a treatment for CTNNB1 Syndrome! While getting these important results published, Dr. Jacob has been testing the drug in human cell models. More updates on those results will be coming soon!
