Reduced PDE4D expression and activity in Acrodysostosis Type 2 patient fibroblasts underlie disease pathology
Oliver F. W. Gardner, Jiayue Ling, Tawan Munkongcharoen, Elka Kyurkchieva, Harry G. Leitch, Louise C. Wilson, George S. Baillie, Patrizia Ferretti
This study shows reduced PDE4D expression and activity in ACRDYS2 patient fibroblasts, leading to altered cAMP/PKA signaling and compensatory changes in PDE4B.
bioRxiv · Aug 11, 2026 · PreprintCell Biology