Article
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia.
Human mutation - 1 Jan 2012
Suleman Farhana, Gualeni Benedetta, Gregson Hannah J, Leighton Matthew P, Piróg Katarzyna A, Edwards Sarah, Holden Paul, Boot-Handford Raymond P, Briggs Michael D
Abstract excerpt
Pseudoachondroplasia (PSACH) results from mutations in cartilage oligomeric matrix protein (COMP) and the p.D469del mutation within the type III repeats of COMP accounts for approximately 30% of PSACH. To determine disease mechanisms of PSACH in vivo, we introduced the Comp D469del mutation into the mouse genome. Mutant animals were normal at birth but grew slower than their wild-type littermates and developed...
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