Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta.

Pace, J M; Kuslich, C D; Willing, M C; Byers, P H

Pace, J M; Kuslich, C D; Willing, M C; Byers, P H.

Affiliation

Pace JM; Department of Pathology, Box 357470, University of Washington, Seattle, WA 98195, USA.

J Med Genet ; 38(7): 443-9, 2001 Jul.

Article in En | MEDLINE | ID: mdl-11432962

Subject(s)

Collagen Type I/genetics; Collagen/genetics; Disulfides/metabolism; Mutation, Missense/genetics; Osteogenesis Imperfecta/genetics; Protein Precursors/genetics; Amino Acid Sequence; Base Sequence; Collagen/chemistry; Collagen/metabolism; Collagen Type I/chemistry; Collagen Type I/metabolism; Collagen Type I, alpha 1 Chain; Cysteine/genetics; Cysteine/metabolism; Disulfides/chemistry; Female; Fibroblasts; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteogenesis Imperfecta/diagnostic imaging; Osteogenesis Imperfecta/metabolism; Osteogenesis Imperfecta/pathology; Pedigree; Peptide Fragments/chemistry; Peptide Fragments/genetics; Peptide Fragments/metabolism; Protein Precursors/chemistry; Protein Precursors/metabolism; Protein Structure, Quaternary; Protein Structure, Secondary; Radiography; Temperature

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Full text: 1 Database: MEDLINE Main subject: Osteogenesis Imperfecta / Protein Precursors / Collagen / Mutation, Missense / Collagen Type I / Disulfides Type of study: Diagnostic_studies Limits: Female / Humans / Male / Newborn Language: En Year: 2001 Type: Article

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