Altered processing of alpha (I) collagen in a case of lethal osteogenesis imperfecta.
Cultured skin fibroblasts from a newborn with the lethal perinatal form of Osteogenesis imperfecta synthesized an over-hydroxylated form of pro alpha 1 (I) chain. The analysis of the CNBr peptides showed that over-hydroxylation occurred all along the molecule.
D002478:Cells, Cultured; D003094:Collagen / Q000032:analysis / Q000096:biosynthesis*; D004591:Electrophoresis, Polyacrylamide Gel; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D006900:Hydroxylation; D010013:Osteogenesis Imperfecta / Q000235:genetics / Q000378:metabolism*; D010446:Peptide Fragments / Q000032:analysis; D011392:Proline / Q000378:metabolism; D014316:Tritium
D010446:Peptide Fragments; D014316:Tritium; D003094:Collagen; D011392:Proline