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Generation of a P4hbY393C mouse model of cole–carpenter syndrome and therapeutic proof-of-concept
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DOI：10.1016/j.lfs.2026.124593.png)
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Abstract
En 中文
• P4hb-mutant mice establish a preclinical platform for Cole–Carpenter syndrome. • Impaired type I collagen biosynthesis emerges as a core disease mechanism. • Repurposed drugs restore collagen secretion in P4hb-mutant cells. • Allele-specific siRNA selectively suppresses mutant P4hb ex vivo.
Keywords:
Cole-carpenter syndrome
Rare disease
Bone
In vivo model
Drug screening
Drug repurposing
Target therapy
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