Open access
Jul 2026
Generation of a P4hbY393C mouse model of cole-carpenter syndrome and therapeutic proof-of-concept.
This study establishes a robust preclinical model for P4hb-related CCS, defines defective type I collagen biosynthesis as a central pathogenic mechanism, and identifies promising therapeutic strategies with translational potential for this currently untreatable skeletal disorder.
A. Maurizi, Elisa Pucci, Piergiorgio Patrizii et al.
· Life Science · 0 citations