Article

Failed Cellular Surveillance Enables Pathogenic Matrix Deposition in a <i>COL2A1</i> -Related Osteoarthritis

2023-10-20

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the COL2A1 gene, encoding procollagen-II, cause various chondrodysplasias, including precocious osteoarthritis with mild spondyloepiphyseal dysplasia engendered by the p.Arg719Cys substitution. The molecular mechanisms underlying these disorders remain incompletely understood, largely owing to the absence of models faithfully recapitulating the human disease. Here, we developed an...

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Literature Corpus work: 3af45fbd-31c6-528e-8919-c93208eb7b94
DOI: 10.1101/2023.10.19.562780

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