Cell BiologybioRxivPreprint
Reduced PDE4D expression and activity in Acrodysostosis Type 2 patient fibroblasts underlie disease pathology
Oliver F. W. Gardner, Jiayue Ling, Tawan Munkongcharoen…·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.
DOI 10.64898/2026.08.10.743905