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Article

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

Human molecular genetics - 15 Jan 2010

Chang Weizhong, Barnes Aileen M, Cabral Wayne A, Bodurtha Joann N, Marini Joan C

Abstract excerpt

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 and P3H1 form a complex with cyclophilin B (CyPB) in the endoplasmic reticulum (ER) which 3-hydroxylates the Pro986...

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Share to Collagen
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 19846465
DOI: 10.1093/hmg/ddp481
PMCID: PMC2796888

Genes

CRTAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex.PMID 19846465Read ↗

Components of the Collagen Prolyl 3-Hydroxylation Complex are Crucial for Normal Bone DevelopmentSemantic proximity Read ↗

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.Semantic proximity Read ↗

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.Semantic proximity Read ↗

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.Semantic proximity Read ↗

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.Semantic proximity Read ↗

Severe osteogenesis imperfecta in cyclophilin B-deficient mice.Semantic proximity Read ↗

Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype.Semantic proximity Read ↗

Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.Semantic proximity Read ↗

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfectaSemantic proximity Read ↗

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.Semantic proximity Read ↗

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.Semantic proximity Read ↗

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