ArticleThe Journal of clinical investigation2005
MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
Article in The Journal of clinical investigation, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 119 citations in OpenAlex.
- The Interstitial Collagenases MMP13 and MMP14 Are Dispensable for the Early Onset of Skin Morphogenesis but Modulate Endochondral Ossification.The American journal of pathology · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- A novel MMP13 frameshift variant causes short stature via enhanced MMP13-HSPA5 interaction and activated endoplasmic reticulum stress.Clinical and translational medicine · 2026Article
- Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.Life science alliance · 2025Article
- Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia.International journal of molecular sciences · 2025Article
- A monoallelic variant in CCN2 causes an autosomal dominant spondyloepimetaphyseal dysplasia with low bone mass.Bone research · 2024Article
- Article
- The checkpoint inhibitor PD-1H/VISTA controls osteoclast-mediated multiple myeloma bone disease.Nature communications · 2023Article
- Article
- MMP13-Overexpressing Mesenchymal Stem Cells Enhance Bone Tissue Formation in the Presence of Collagen Hydrogel.Tissue engineering and regenerative medicine · 2023Article
- Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia.International journal of biological sciences · 2023Article
- Mmp13 deletion in mesenchymal cells increases bone mass and may attenuate the cortical bone loss caused by estrogen deficiency.Scientific reports · 2022Article
- Article
- Runx2 is required for hypertrophic chondrocyte mediated degradation of cartilage matrix during endochondral ossification.Matrix biology plus · 2021Article
- Indole Inhibitors of MMP-13 for Arthritic Disorders.ACS omega · 2021Article
- Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.BMC pediatrics · 2021Review
- Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Cleavage by MMP-13 renders VWF unable to bind to collagen but increases its platelet reactivity.Journal of thrombosis and haemostasis : JTH · 2020Article
- Destroy to Rebuild: The Connection Between Bone Tissue Remodeling and Matrix Metalloproteinases.Frontiers in physiology · 2020Review
- Recent advances in understanding the regulation of metalloproteinases.F1000Research · 2019Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
MMPs, which degrade components of the ECM, have roles in embryonic development, tissue repair, cancer, arthritis, and cardiovascular disease. We show that a missense mutation of MMP13 causes the Missouri type of human spondyloepimetaphyseal dysplasia (SEMD(MO)), an autosomal dominant disorder characterized by defective growth and modeling of vertebrae and long bones. Genome-wide linkage analysis mapped SEMD(MO) to a 17-cM region on chromosome 11q14.3-23.2 that contains a cluster of 9 MMP genes. Among these, MMP13 represented the best candidate for SEMD(MO), since it preferentially degrades collagen type II, abnormalities of which cause skeletal dysplasias that include Strudwick type SEMD. DNA sequence analysis revealed a missense mutation, F56S, that substituted an evolutionarily conserved phenylalanine residue for a serine in the proregion domain of MMP13. We predicted, by modeling MMP13 structure, that this F56S mutation would result in a hydrophobic cavity with misfolding, autoactivation, and degradation of mutant protein intracellularly. Expression of wild-type and mutant MMP13s in human embryonic kidney cells confirmed abnormal intracellular autoactivation and autodegradation of F56S MMP13 such that only enzymatically inactive, small fragments were secreted. Thus, the F56S mutation results in deficiency of MMP13, which leads to the human skeletal developmental anomaly of SEMD(MO).
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