Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proα1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta

Documenti analoghi

• Defective C-propeptides of the Proα2(I) Chain of Type I Procollagen Impede Molecular Assembly and Result in Osteogenesis Imperfecta
  di: Pace, James M., et al.
  Pubblicazione: (2008)
• Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
  di: Cundy, Tim, et al.
  Pubblicazione: (2018)
• Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.
  di: Barsh, G S, et al.
  Pubblicazione: (1982)
• Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.
  di: Barsh, G S, et al.
  Pubblicazione: (1981)
• A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
  di: Constantinou, C D, et al.
  Pubblicazione: (1989)