{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T05:01:17Z","timestamp":1761541277959},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"1","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1993,1,1]]},"abstract":"<jats:p>Cultured skin fibroblasts were examined from two probands with type II (lethal) osteogenesis imperfecta. One proband had a single base mutation which converted the glycine codon at position alpha 1-244 in the alpha 1(I) chain of procollagen I into a cysteine codon whereas the other had a similar mutation that converted the glycine codon at position alpha 2-787 of the alpha 2(I) chain into a cysteine codon. Both mutations produced post-translational overmodification of procollagen I. The Cys alpha 1-244 mutation, however, had a minimal effect on the thermal stability or secretion of the protein whereas the Cys alpha 2-787 mutation markedly decreased the thermal stability and, apparently as a result, essentially none of the mutated protein was secreted. The results provide clear exceptions to two previous generalizations about the position-specificity of glycine substitutions in procollagen I.<\/jats:p>","DOI":"10.1042\/bj2890195","type":"journal-article","created":{"date-parts":[[2015,8,10]],"date-time":"2015-08-10T21:30:37Z","timestamp":1439242237000},"page":"195-199","update-policy":"http:\/\/dx.doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of \u03b11(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the \u03b12(I) chain markedly destabilizes the triple helix"],"prefix":"10.1042","volume":"289","author":[{"given":"A","family":"Fertala","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Westerhausen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Morris","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J E","family":"Rooney","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Prockop","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","container-title":["Biochemical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/biochemj\/article-pdf\/289\/1\/195\/608622\/bj2890195.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/biochemj\/article-pdf\/289\/1\/195\/608622\/bj2890195.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T00:57:26Z","timestamp":1637715446000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/biochemj\/article\/289\/1\/195\/36944\/Two-cysteine-substitutions-in-procollagen-I-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,1,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,1,1]]}},"URL":"https:\/\/doi.org\/10.1042\/bj2890195","relation":{},"ISSN":["0264-6021","1470-8728"],"issn-type":[{"value":"0264-6021","type":"print"},{"value":"1470-8728","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,1,1]]}}}