Article
Pseudoachondroplasia is caused through both intra- and extracellular pathogenic pathways.
The Journal of clinical investigation - 1 Aug 2002
Dinser Robert, Zaucke Frank, Kreppel Florian, Hultenby Kjell, Kochanek Stefan, Paulsson Mats, Maurer Patrik
Abstract excerpt
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...
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