Article
Novel therapeutic interventions for pseudoachondroplasia.
Bone - 1 Sept 2017
Posey Karen L, Hecht Jacqueline T
Abstract excerpt
Pseudoachondroplasia (PSACH), a severe short-limbed dwarfing condition, is associated with life-long joint pain and early onset osteoarthritis. PSACH is caused by mutations in cartilage oligomeric matrix protein (COMP), a pentameric matricellular protein expressed primarily in cartilage and other musculoskeletal tissues. Mutations in COMP diminish calcium binding and as a result perturb protein folding and export...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
