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.

doi:10.1074/jbc.270.15.8642

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Article

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.

The Journal of biological chemistry - 14 Apr 1995

Lamandé S R, Chessler S D, Golub S B, Byers P H, Chan D, Cole W G, Sillence D O, Bateman J F

Abstract excerpt

A heterozygous single base change in exon 49 of COL1A1, which converted the codon for pro alpha 1(I) carboxyl-terminal propeptide residue 94 from tryptophan (TGG) to cysteine (TGT) was identified in a baby with lethal osteogenesis imperfecta (OI64). The C-propeptide mutations in OI64 and in anoth...

Topics

Base Sequence
Brefeldin A
Carrier Proteins
Cells, Cultured
Collagen
Cyclopentanes
DNA Primers
Disulfides
Endoplasmic Reticulum
Endoplasmic Reticulum Chaperone BiP
Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heat-Shock Proteins

Humans

Infant, Newborn

Molecular Chaperones

Molecular Sequence Data

Mutation

Osteogenesis Imperfecta

Source

Open in PubMed

Identifiers

PMID: 7721766
DOI: 10.1074/jbc.270.15.8642

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7721766-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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