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• W1836427129 abstract "Abstract Phenylketonuria (PKU) results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of phenylalanine (PHE) to tyrosine. Although this inborn error of metabolism was among the first in humans to be understood biochemically and genetically, little is known of the mechanism(s) involved in the pathology of PKU. We have combined mouse germline mutagenesis with screens for hyperphenylalaninemia to isolate three mutants deficient in phenylalanine hydroxylase (PAH) activity and cross-reactive protein. Two of these have reduced PAH mRNA and display characteristics of untreated human PKU patients. A low PHE diet partially reverses these abnormalities. Our success in using high frequency random germline point mutagenesis to obtain appropriate disease models illustrates how such mutagenesis can complement the emergent power of targeted mutagenesis in the mouse. The mutants now can be used as models in studying both maternal PKU and somatic gene therapy." @default.
• W1836427129 created "2016-06-24" @default.
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• W1836427129 date "1993-08-01" @default.
• W1836427129 modified "2023-10-16" @default.
• W1836427129 title "Mouse models of human phenylketonuria." @default.
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• W1836427129 doi "https://doi.org/10.1093/genetics/134.4.1205" @default.
• W1836427129 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1205587" @default.
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