Ontology highlight
ABSTRACT:
SUBMITTER: Liang G
PROVIDER: S-EPMC3903611 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Liang Guoyan G Lian Chengjie C Huang Di D Gao Wenjie W Liang Anjing A Peng Yan Y Ye Wei W Wu Zizhao Z Su Peiqiang P Huang Dongsheng D
PloS one 20140127 1
The collagen type II alpha 1 (COL2A1) mutation causes severe skeletal malformations, but the pathogenic mechanisms of how this occurs are unclear. To understand how this may happen, a col2a1 p.Gly1170Ser mutated mouse model was constructed and in homozygotes, the chondrodysplasia phenotype was observed. Misfolded procollagen was largely synthesized and retained in dilated endoplasmic reticulum and the endoplasmic reticulum stress (ERS)-unfolded protein response (UPR)-apoptosis cascade was activa ...[more]