| http://purl.uniprot.org/citations/8163672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8163672 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8163672 | http://www.w3.org/2000/01/rdf-schema#comment | "We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experiments indicated that the content of trifunctional protein was < 10% of that in control cells, due to a very rapid degradation of protein newly synthesized in the mitochondria. The diminution of trifunctional protein was associated with a decreased activity of enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase, when measured using medium-chain to long-chain substrates. (b) In cells from patient 2, the rate of degradation of newly synthesized trifunctional protein was faster than that in control cells, giving rise to a trifunctional protein amounting to 60% of the control levels. The 3-hydroxy-acyl-CoA dehydrogenase activity with medium-chain to long-chain substrates was decreased drastically, with minor changes in activities of the two other enzymes. These data suggest a subtle abnormality of trifunctional protein in cells from patient 2. Taken together, the results obtained show that in both patients, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is caused by an abnormality in the trifunctional protein, even though there is a heterogeneity in both patients."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci117158"xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci117158"xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Hashimoto T."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Hashimoto T."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Wanders R.J."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Wanders R.J."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Saudubray J.-M."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Saudubray J.-M."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Kamijo T."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Kamijo T."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Aoyama T."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Aoyama T."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Komiyama A."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/author | "Komiyama A."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/date | "1994"xsd:gYear |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/name | "J. Clin. Invest."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/pages | "1740-1747"xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/pages | "1740-1747"xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/title | "Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients."xsd:string |
| http://purl.uniprot.org/citations/8163672 | http://purl.uniprot.org/core/title | "Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients."xsd:string |