| http://purl.uniprot.org/citations/2365812 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2365812 | http://www.w3.org/2000/01/rdf-schema#comment | "The rhizomelic form of chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized biochemically by an impairment of plasmalogen biosynthesis and phytanate catabolism. We have now found that the maturation of peroxisomal 3-oxoacyl-CoA thiolase is impaired in fibroblasts from RCDP patients. To establish the subcellular localization of the 3-oxoacyl-CoA thiolase precursor protein, cultured skin fibroblasts were fractionated on a continuous Nycodenz gradient. Only a small amount of 3-oxoacyl-CoA thiolase activity was present in the catalase-containing (peroxisomal) fractions of RCDP fibroblasts in comparison with control fibroblasts. Moreover, the amount of thiolase protein in immunoblots of the catalase-containing fractions was below the limit of detection. Finally, the beta-oxidation of [14C]palmitoyl-CoA was found to be reduced in these fractions. We conclude that the mutation in RCDP leads to a partial deficiency of 3-oxoacyl-CoA thiolase activity in the peroxisomes and, concomitantly, an impairment in the ability to convert the precursor of this protein to the mature form. The reduction of 3-oxoacyl-CoA thiolase activity results in a decrease in the rate of peroxisomal beta-oxidation of palmitoyl-CoA. However, the capacity of the peroxisomes to oxidize very-long-chain fatty acids must be sufficient to prevent excessive accumulation of these compounds in vivo."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci114674"xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Ofman R."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Wanders R.J."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "van Roermund C.W."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Just W.W."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Tager J.M."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Schutgens R.B."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Heymans H.S."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/author | "Heikoop J.C."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/date | "1990"xsd:gYear |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/pages | "126-130"xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/title | "Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme."xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://purl.uniprot.org/core/volume | "86"xsd:string |
| http://purl.uniprot.org/citations/2365812 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2365812 |
| http://purl.uniprot.org/citations/2365812 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/2365812 |
| http://purl.uniprot.org/uniprot/P09110#attribution-7091E22C57AC51A6479564E2DE6FB2E2 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/2365812 |