Article
Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH.
Matrix biology : journal of the International Society for Matrix Biology - 1 Nov 2004
Chen Tung-Ling L, Stevens Jeff W, Cole William G, Hecht Jacqueline T, Vertel Barbara M
Abstract excerpt
Pseudoachondroplasia (PSACH) is an autosomal dominant disease that mainly affects cartilage, resulting in skeletal dysplasias and early onset osteoarthritis. PSACH is caused by mutations in the cartilage oligomeric matrix protein (COMP) gene. PSACH chondrocytes accumulate unique COMP-containing lamellar structures in an expanded rough endoplasmic reticulum (rER). Although COMP is also present in tendon...
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