Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.
Biochem Biophys Res Commun. 2015 Dec 4-11;468(1-2):86-91. doi: 10.1016/j.bbrc.2015.10.160. Epub 2015 Nov 9.
Biochem Biophys Res Commun. 2015.
PMID: 26545783
This mutant possessed a p.Tyr1391Ser missense mutation in the C-propeptide coding region, and this mutation was located in positions corresponding to the human COL2A1 mutation responsible for platyspondylic lethal skeletal dysplasia, Torrance type (PLS …
This mutant possessed a p.Tyr1391Ser missense mutation in the C-propeptide coding region, and this mutation was located in positions corresp …