ArticleThe Journal of biological chemistry2007
Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.
Article in The Journal of biological chemistry, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 49 citations in OpenAlex.
- Article
- Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.Molecular genetics & genomic medicine · 2025Article
- From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.International journal of molecular sciences · 2025Review
- Using modern approaches to sedimentation velocity to detect conformational changes in proteins.European biophysics journal : EBJ · 2020Article
- Critical assessment of relevant methods in the field of biosensors with direct optical detection based on fibers and waveguides using plasmonic, resonance, and interference effects.Analytical and bioanalytical chemistry · 2020Review
- A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.BMC musculoskeletal disorders · 2020Article
- The distribution patterns of COMP and matrilin-3 in septal, alar and triangular cartilages of the human nose.Histochemistry and cell biology · 2018Article
- Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.Frontiers in genetics · 2018Article
- Matrilin-3 Role in Cartilage Development and Osteoarthritis.International journal of molecular sciences · 2016Review
- The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review).International journal of molecular medicine · 2015Review
- Characterization of recombinantly expressed matrilin VWA domains.Protein expression and purification · 2015Article
- Matrilin-3 inhibits chondrocyte hypertrophy as a bone morphogenetic protein-2 antagonist.The Journal of biological chemistry · 2014Article
- Matrilin-3 as a putative effector of C-type natriuretic peptide signaling during TGF-β induced chondrogenic differentiation of mesenchymal stem cells.Molecular biology reports · 2014Article
- Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.International journal of molecular sciences · 2014Article
- Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures.Biology open · 2013Article
- Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.PloS one · 2013Article
- Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.Arthritis and rheumatism · 2012Article
- A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.Human mutation · 2012Article
- Article
- Collagen VI, conformation of A-domain arrays and microfibril architecture.The Journal of biological chemistry · 2011Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
Abstract
Mutations in matrilin-3 result in multiple epiphyseal dysplasia, which is characterized by delayed and irregular bone growth and early onset osteoarthritis. The majority of disease-causing mutations are located within the beta-sheet of the single A-domain of matrilin-3, suggesting that they disrupt the structure and/or function of this important domain. Indeed, the expression of mutant matrilin-3 results in its intracellular retention within the rough endoplasmic reticulum of cells, where it elicits an unfolded protein response. To understand the folding characteristics of the matrilin-3 A-domain we determined its structure using CD, analytical ultracentrifugation, and dual polarization interferometry. This study defined novel structural features of the matrilin-3 A-domain and identified a conformational change induced by the presence or the absence of Zn(2+). In the presence of Zn(2+) the A-domain adopts a more stable "tighter" conformation. However, after the removal of Zn(2+) a potential structural rearrangement of the metal ion-dependent adhesion site motif occurs, which leads to a more "relaxed" conformation. Finally, to characterize the interactions of the matrilin-3 A-domain we performed binding studies on a BIAcore using type II and IX collagen and cartilage oligomeric matrix protein. We were able to demonstrate that it binds to type II and IX collagen and cartilage oligomeric matrix protein in a Zn(2+)-dependent manner. Furthermore, we have also determined that the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and that this binding is abolished in the presence of a disease causing mutation in type IX collagen.
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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.