Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

Null mutations in cartilage-associated protein (CRTAP) and prolyl 3-hydroxylase 1 (P3H1/LEPRE1) cause types VII and VIII OI, respectively, two novel recessive forms of osteogenesis imperfecta (OI) with severe to lethal bone dysplasia and overmodification of the type I collagen helical region. CRTAP...

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Bibliografiska uppgifter
Huvudupphovsmän: Chang, Weizhong, Barnes, Aileen M., Cabral, Wayne A., Bodurtha, Joann N., Marini, Joan C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2010
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2796888/
https://ncbi.nlm.nih.gov/pubmed/19846465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp481
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