Ontology highlight
ABSTRACT:
ORGANISM(S): Mus Musculus (mouse)
SUBMITTER: Yoshihiro Ishikawa
PROVIDER: PXD035051 | JPOST Repository | Mon Nov 21 00:00:00 GMT 2022
REPOSITORIES: jPOST
Items per page: 5 1 - 5 of 15 |
Ishikawa Yoshihiro Y Taga Yuki Y Coste Thibault T Tufa Sara F SF Keene Douglas R DR Mizuno Kazunori K Tournier-Lasserve Elisabeth E Gould Douglas B DB
The Journal of biological chemistry 20221117 12
Collagens are the most abundant proteins in the body and among the most biosynthetically complex. A molecular ensemble of over 20 endoplasmic reticulum resident proteins participates in collagen biosynthesis and contributes to heterogeneous post-translational modifications. Pathogenic variants in genes encoding collagens cause connective tissue disorders, including osteogenesis imperfecta, Ehlers-Danlos syndrome, and Gould syndrome (caused by mutations in COL4A1 and COL4A2), and pathogenic varia ...[more]