[HTML][HTML] Prolyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bones
JA Vranka, E Pokidysheva, L Hayashi, K Zientek… - Journal of Biological …, 2010 - ASBMB
Osteogenesis imperfecta (OI) is a skeletal disorder primarily caused by mutations in the type
I collagen genes. However, recent investigations have revealed that mutations in the genes
encoding for cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1 (P3H1) can
cause a severe, recessive form of OI. These reports show minimal 3-hydroxylation of key
proline residues in type I collagen as a result of CRTAP or P3H1 deficiency and demonstrate
the importance of P3H1 and CRTAP to bone structure and development. P3H1 and CRTAP …
I collagen genes. However, recent investigations have revealed that mutations in the genes
encoding for cartilage-associated protein (CRTAP) or prolyl 3-hydroxylase 1 (P3H1) can
cause a severe, recessive form of OI. These reports show minimal 3-hydroxylation of key
proline residues in type I collagen as a result of CRTAP or P3H1 deficiency and demonstrate
the importance of P3H1 and CRTAP to bone structure and development. P3H1 and CRTAP …