ArticleThe Journal of clinical investigation2002
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.
Article in The Journal of clinical investigation, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 70 citations in OpenAlex.
- Mechanobiology of hypertrophic chondrocyte mineralization: Biomechanical regulation and therapeutic implications in skeletal disorders.Mechanobiology in medicine · 2026Review
- Curcumin and Resveratrol: Nutraceuticals with so Much Potential for Pseudoachondroplasia and Other ER-Stress Conditions.Biomolecules · 2024Review
- Early Resveratrol Treatment Mitigates Joint Degeneration and Dampens Pain in a Mouse Model of Pseudoachondroplasia (PSACH).Biomolecules · 2023Article
- Cartilage Oligomeric Matrix Protein, Diseases, and Therapeutic Opportunities.International journal of molecular sciences · 2022Review
- Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta.Frontiers in endocrinology · 2022Article
- Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy.International journal of molecular sciences · 2021Article
- Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies.The American journal of pathology · 2019Article
- Cartilage oligomeric matrix protein: COMPopathies and beyond.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.International journal of molecular sciences · 2018Article
- Review
- Pharmacophore-based screening of differentially-expressedJournal, genetic engineering & biotechnology · 2016Article
- The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).BMC musculoskeletal disorders · 2014Article
- Pseudoachondroplasia/COMP - translating from the bench to the bedside.Matrix biology : journal of the International Society for Matrix Biology · 2014Review
- The ECM-cell interaction of cartilage extracellular matrix on chondrocytes.BioMed research international · 2014Review
- Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.Human molecular genetics · 2013Article
- A trans-acting protein effect causes severe eye malformation in the Mp mouse.PLoS genetics · 2013Article
- Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.The Journal of biological chemistry · 2012Article
- Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia.The American journal of pathology · 2012Article
- A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.BMC medical genetics · 2011Article
- Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.Molecular and cellular biochemistry · 2010Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudoachondroplasia is a dominantly inherited chondrodysplasia associated with mutations in cartilage oligomeric matrix protein (COMP). Investigations into the pathogenesis of pseudoachondroplasia are hampered by its rarity. We developed a cell culture model by expressing mutant COMP in bovine primary chondrocytes using a gutless adenoviral vector. We show that mutant COMP exerts its deleterious effects through both intra- and extracellular pathogenic pathways. Overexpression of mutant COMP led to a dose-dependent decrease in cellular viability. The secretion of mutant COMP was markedly delayed, presumably due to a prolonged association with chaperones in the endoplasmic reticulum (ER). The ECM lacked organized collagen fibers and showed amorphous aggregates formed by mutant COMP. Thus, pseudoachondroplasia appears to be an ER storage disease, most likely caused by improper folding of mutant COMP. The growth failure of affected patients may be explained by an increased cell death of growth-plate chondrocytes. Dominant interference of the mutant protein on collagen fiber assembly could contribute to the observed failure of the ECM of cartilage and tendons.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.