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Article

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

Clinical genetics - 1 Nov 2012

Valli M, Barnes A M, Gallanti A, Cabral W A, Viglio S, Weis M A, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini J C, Mottes M

Abstract excerpt

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 normally secrete about 10% of CRTAP. Most CRTAP mutations cause a null allele and lethal type VII OI. We identified a...

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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: 21955071
DOI: 10.1111/j.1399-0004.2011.01794.x
PMCID: PMC3748815

Genes

CRTAP

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.PMID 21955071Read ↗

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

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

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

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

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

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

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

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

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

Role of cartilage-associated protein in skeletal development.Semantic proximity Read ↗

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

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