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Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix
Deficiency of any component of the ER-resident collagen prolyl 3-hydroxylation complex causes recessive osteogenesis imperfecta (OI). The complex modifies the α1(I)Pro986 residue and contains cartilage-associated protein (CRTAP), prolyl 3-hydroxylase 1 (P3H1) and cyclophilin B (CyPB). Fibroblasts no...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2011
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3748815/ https://ncbi.nlm.nih.gov/pubmed/21955071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2011.01794.x |
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