| http://purl.uniprot.org/citations/10767173 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10767173 | http://www.w3.org/2000/01/rdf-schema#comment | "Hyperphenylalaninemias (HPA) are Mendelian disorders resulting from deficiencies in the conversion of phenylalanine to tyrosine. The vast majority are explained by a primary deficiency of phenylalanine hydroxylase (PAH) activity. The majority of untreated patients experience irreversible impairment of cognitive development. Although it is one of the best known hereditary metabolic disorders, mechanisms underlying the pathophysiology of the disease are still not fully understood; to this end, the availability of an orthologous animal model is relevant. Various mutant hyperphenylalaninemic mouse models with an HPA phenotype, generated by N-ethyl-N'-nitrosourea (ENU) mutagenesis at the Pah locus, have become available. Here we report a new hybrid strain, ENU1/2, with primary enzyme deficiency, produced by cross breeding. The ENU1, ENU1/2, and ENU2 strains display mild, moderate, and severe phenotypes, respectively, relative to the control strain (BTBR/Pas). The Pah enzyme activities of the various models correlate inversely with the corresponding phenylalanine levels in plasma and brain and the delay in plasma clearance response following a phenylalanine challenge. The maternal HPA effect on the fetus correlates directly with the degree of hyperphenylalaninemia, but only the ENU2 strain has impaired learning."xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.org/dc/terms/identifier | "doi:10.1006/mgme.2000.2974"xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/author | "Scriver C.R."xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/author | "Sarkissian C.N."xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/author | "McDonald J.D."xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/author | "Boulais D.M."xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/pages | "188-194"xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/title | "A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia."xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://purl.uniprot.org/core/volume | "69"xsd:string |
| http://purl.uniprot.org/citations/10767173 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/10767173 |
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| http://purl.uniprot.org/uniprot/#_P16331-mappedCitation-10767173 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/10767173 |
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