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Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly.
Lamandé SR, Chessler SD, Golub SB, Byers PH, Chan D, Cole WG, Sillence DO, Bateman JF. Lamandé SR, et al. Among authors: cole wg. J Biol Chem. 1995 Apr 14;270(15):8642-9. doi: 10.1074/jbc.270.15.8642. J Biol Chem. 1995. PMID: 7721766 Free article.
A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG. Bateman JF, et al. Among authors: cole wg. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729. Biochem J. 1994. PMID: 7945197 Free PMC article.
278 results