Nonsense, but not frameshift, truncating mutations result in Cyclin D2 stabilisation in an induced pluripotent stem cell model of MPPH
Erica L. Harris, Rowan D. Taylor, Katarzyna Szymańska, Ailsa M.S. Rose, Jacquelyn Bond, Colin A. Johnson, James A. Poulter
The paper shows that a nonsense mutation in CCND2 stabilizes Cyclin D2 in iPSC models of MPPH, while frameshift mutations do not, affecting neurogenesis.
bioRxiv · Aug 29, 2025 · PreprintDevelopmental Biology