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Article

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

Nature genetics - 1 Mar 2007

Cabral Wayne A, Chang Weizhong, Barnes Aileen M, Weis MaryAnn, Scott Melissa A, Leikin Sergey, Makareeva Elena, Kuznetsova Natalia V, Rosenbaum Kenneth N, Tifft Cynthia J, Bulas Dorothy I, Kozma Chahira, Smith Peter A, Eyre David R, Marini Joan C

Abstract excerpt

A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I collagen has long been suspected. Mutations in human CRTAP (cartilage-associated protein) causing recessive bone disease have been reported. CRTAP forms a complex with cyclophilin B and prolyl 3-hydroxylase 1, which is encoded by LEPRE1 and hydroxylates one residue in type I collagen, alpha1(I)Pro986. We present the first...

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Share to Bone Diseases, Metabolic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17277775
DOI: 10.1038/ng1968
PMCID: PMC7510175

Genes

CRTAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.PMID 17277775Read ↗

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

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

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

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive 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 ↗

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.Semantic proximity Read ↗

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

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.Semantic proximity Read ↗

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.Semantic proximity Read ↗

Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.Semantic proximity Read ↗

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.Semantic proximity Read ↗

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