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...

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Main Authors: Valli, M, Barnes, AM, Gallanti, A, Cabral, WA, Viglio, S, Weis, MA, Makareeva, E, Eyre, D, Leikin, S, Antoniazzi, F, Marini, JC, Mottes, M
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang: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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