Article
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.
Human mutation - 1 Mar 2010
Otten Christiane, Hansen Uwe, Talke Anja, Wagener Raimund, Paulsson Mats, Zaucke Frank
Abstract excerpt
Mutations in matrilin-3 have been associated with common skeletal diseases like osteoarthritis as well as with the rare chondrodysplasias MED and SEMD. We have previously shown that the mutations p.R116W and p.C299S, associated with MED and SEMD, respectively, cause retention of matrilin-3 within the endoplasmic reticulum of primary chondrocytes, while the mutation associated with osteoarthritis, p.T298M, does...
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