{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T12:10:13Z","timestamp":1694952613152},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1985,6,18]],"date-time":"1985-06-18T00:00:00Z","timestamp":487900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1986,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The cell\u2010free translation of ornithine transcarbamylase (OTC) mRNA from the livers of two heterozygous patients (from different families) with OTC deficiency was performed. The enzyme activities and the immunoreactive proteins in both patients were about 5% of those in controls. Immunoblotting assay of liver extracts from both patients showed decreased amounts of the OTC protein. The mRNA from the liver of patient 1 directed the synthesis of a very small amount of OTC precursor of normal subunit size (40 000 Da), whereas that from patient 2 directed the synthesis of small amounts of two distinct<jats:italic>in vitro<\/jats:italic> products; one was 40 000 Da and the other was about 30 000 Da. The<jats:italic>in vitro<\/jats:italic> product of normal precursor synthesized with mRNA from patient 2 was converted to mature\u2010sized OTC by isolated rat liver mitochondria, whereas the smaller product was degraded during the incubation with the mitochondria. These results indicate that in both patients the translatable level of mRNA for active OTC from liver cells was much lower than that in the controls. The results also suggest that in patient 2, the smaller product presumably derived from an abnormal gene could not be transferred to the mitochondria.<\/jats:p>","DOI":"10.1007\/bf01799456","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:51:43Z","timestamp":1119372703000},"page":"175-185","source":"Crossref","is-referenced-by-count":2,"title":["Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity"],"prefix":"10.1002","volume":"9","author":[{"given":"H.","family":"Kodama","sequence":"first","affiliation":[{"name":"Department of Pediatrics Jichi Medical School, Minamikawachi\u2010machi  Kawachi\u2010gun, Tochigi\u2010ken 329\u201004 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ohtake","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Chiba University School of Medicine  Inohana, Chiba 280 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Chiba University School of Medicine  Inohana, Chiba 280 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Okabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical School, Minamikawachi\u2010machi  Kawachi\u2010gun, Tochigi\u2010ken 329\u201004 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Tatibana","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Chiba University School of Medicine  Inohana, Chiba 280 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kamoshita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jichi Medical School, Minamikawachi\u2010machi  Kawachi\u2010gun, Tochigi\u2010ken 329\u201004 Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1985,6,18]]},"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\/0304-4165(83)90379-3"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(72)90525-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1542\/peds.62.1.30","article-title":"Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency","volume":"62","author":"Glasgow A. 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