| http://purl.uniprot.org/citations/14755340 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14755340 | http://www.w3.org/2000/01/rdf-schema#comment | "Tandem mass spectrometry was applied to detect derangements in the pathways of amino acid and fatty acid metabolism in N-ethyl-N-nitrosourea-treated (ENU-treated) mice. We identified mice with marked elevation of blood branched-chain amino acids (BCAAs), ketoaciduria, and clinical features resembling human maple syrup urine disease (MSUD), a severe genetic metabolic disorder caused by the deficiency of branched-chain alpha-keto acid dehydrogenase (BCKD) complex. However, the BCKD genes and enzyme activity were normal. Sequencing of branched-chain aminotransferase genes (Bcat) showed no mutation in the cytoplasmic isoform (Bcat-1) but revealed a homozygous splice site mutation in the mitochondrial isoform (Bcat-2). The mutation caused a deletion of exon 2, a marked decrease in Bcat-2 mRNA, and a deficiency in both BCAT-2 protein and its enzyme activity. Affected mice responded to a BCAA-restricted diet with amelioration of the clinical symptoms and normalization of the amino acid pattern. We conclude that BCAT-2 deficiency in the mouse can cause a disease that mimics human MSUD. These mice provide an important animal model for study of BCAA metabolism and its toxicity. Metabolomics-guided screening, coupled with ENU mutagenesis, is a powerful approach in uncovering novel enzyme deficiencies and recognizing important pathways of genetic metabolic disorders."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci19574"xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Millington D."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Wu J.Y."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Stevens R."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Li S.C."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Chen Y.T."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Kao H.J."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/author | "Hillman S."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/pages | "434-440"xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/title | "ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease."xsd:string |
| http://purl.uniprot.org/citations/14755340 | http://purl.uniprot.org/core/volume | "113"xsd:string |
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