ArticleCalcified tissue international2018
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.
Article in Calcified tissue international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Osteogenesis Imperfecta or Non-accidental Trauma? The Diagnostic Dilemma in Pediatric Fractures.Journal of the Pediatric Orthopaedic Society of North America · 2025Article
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Reviewing the Regulators of COL1A1.International journal of molecular sciences · 2023Review
- Pharmacological Functions, Synthesis, and Delivery Progress for Collagen as Biodrug and Biomaterial.Pharmaceutics · 2023Review
- Review
- Main and Minor Types of Collagens in the Articular Cartilage: The Role of Collagens in Repair Tissue Evaluation in Chondral Defects.International journal of molecular sciences · 2021Review
- Collagen transport and related pathways in Osteogenesis Imperfecta.Human genetics · 2021Review
- COL1-Related Disorders: Case Report and Review of Overlapping Syndromes.Frontiers in genetics · 2021Article
- Precise editing of myostatin signal peptide by CRISPR/Cas9 increases the muscle mass of Liang Guang Small Spotted pigs.Transgenic research · 2020Article
- Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a NovelGenes · 2019Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break easily. Around 85-90% of cases are due to autosomal dominant mutations in the genes encoding type I collagen, the major organic component of bone. Genotype-phenotype correlations have shown that quantitative defects of collagen type I lead to mild OI, whereas structural defects show a wide clinical range from mild to perinatal lethal. This may partially be explained by the type of amino acid substitution and the relative location in the domain structure. To fully understand the variability of the clinical manifestation and the underlying pathomechanisms, further investigations are required. Here we provide the first biochemical characterization of a mutation at the signal peptide cleavage site of COL1A1, a domain not yet characterized. By steady-state analysis, we observed reduced production of collagen type I. Furthermore, by pulse-chase analysis we detected delayed secretion and partial intracellular retention of collagen I. In the cellular fraction, the electrophoretic migration was abnormal; however, secreted type I collagen showed a normal migration pattern. The intracellular retention of collagen I was confirmed by immunofluorescent staining. Moreover, transmission electron microscopy of cultured fibroblasts revealed enlargement of ER cisternae. These results further support the hypothesis that mechanisms interfering with ER integrity play an important role in the pathology of severe OI.
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Registered trials
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