[HTML][HTML] Misfolding of collagen X chains harboring Schmid metaphyseal chondrodysplasia mutations results in aberrant disulfide bond formation, intracellular retention …
R Wilson, S Freddi, D Chan, KSE Cheah… - Journal of Biological …, 2005 - ASBMB
Collagen X is a short chain collagen expressed specifically by the hypertrophic
chondrocytes of the cartilage growth plate during endochondral bone formation.
Accordingly, COL10A1 mutations disrupt growth plate function and cause Schmid
metaphyseal chondrodysplasia (SMCD). SMCD mutations are almost exclusively located in
the NC1 domain, which is crucial for both trimer formation and extracellular assembly.
Several mutations are expected to reduce the level of functional collagen X due to NC1 …
chondrocytes of the cartilage growth plate during endochondral bone formation.
Accordingly, COL10A1 mutations disrupt growth plate function and cause Schmid
metaphyseal chondrodysplasia (SMCD). SMCD mutations are almost exclusively located in
the NC1 domain, which is crucial for both trimer formation and extracellular assembly.
Several mutations are expected to reduce the level of functional collagen X due to NC1 …