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The total absence of OTC activity in the liver of the patient was caused by a complete lack of immunoreactive material, as determined by Ouchterlony double immunodiffusion, single radial immunodiffusion, and sodium dodecylsulphate\u2010polyacrylamide gel electrophoresis of immunoprecipitate and of liver homogenate.<\/jats:p><jats:p>However, mRNA coding for the precursor of OTC was clearly detected in autopsy specimens of the patient's liver as well as of controls in a cell\u2010free translation system consisting of rabbit reticulocyte lysates and [<jats:sup>35<\/jats:sup>S]methionine. The labelled precursor of OTC synthesized<jats:italic>in vitro<\/jats:italic> with mRNA from the patient could be transported into rat liver and kidney mitochondria and processed to form a protein with a mulecular weight indistinguishable from mature OTC, suggesting that there was no defect in the protein structure necessary for its transport into mitochondria. These results suggest that the primary defect of the OTC deficiency was located in the structural gene and that the labile OTC\u2010related protein, after being synthesized with its mRNA, was degraded too rapidly to be detected by the method used.<\/jats:p>","DOI":"10.1007\/bf01805609","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:53:45Z","timestamp":1119916425000},"page":"2-8","source":"Crossref","is-referenced-by-count":8,"title":["Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein"],"prefix":"10.1002","volume":"7","author":[{"given":"T.","family":"Saheki","sequence":"first","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Miura","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ohtake","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tatibana","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Katsumata","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Ohno","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, School of Medicine Kagoshima University  Usuki 1208\u20101 Kagoshima 890 Japan"},{"name":"Department of Biochemistry, School of Medicine Chiba University  Chiba"},{"name":"Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1983,8,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4838(82)90136-4"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2744(80)90165-5"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(63)90171-2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.10.3853"},{"key":"e_1_2_1_6_1","first-page":"41","article-title":"Characteristics and evaluation of antibody\u2010horseradish peroxidase conjugates prepared by using a maleimide compound, glutaraldehyde and periodate","volume":"4","author":"Imagawa M.","year":"1982","journal-title":"J. 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