| First Author | Liu TJ | Year | 1992 |
| Journal | Somat Cell Mol Genet | Volume | 18 |
| Issue | 1 | Pages | 89-96 |
| PubMed ID | 1312261 | Mgi Jnum | J:564 |
| Mgi Id | MGI:49101 | Doi | 10.1007/BF01233451 |
| Citation | Liu TJ, et al. (1992) Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice. Somat Cell Mol Genet 18(1):89-96 |
| abstractText | Phenylketonuria (PKU) is a metabolic disorder secondary to a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). The recent creation of a mouse strain for PAH deficiency has provided an excellent model system to explore the possibility of its phenotypic correction by hepatic gene therapy. A recombinant retrovirus containing the mouse PAH cDNA under the transcriptional control of the human CMV promoter was constructed and used to transduce hepatocytes isolated from PAH-deficient mice. Viral-transduced hepatocytes produced dramatically higher levels of mouse PAH mRNA as compared to control mock-infected hepatocytes. The PAH mRNA was translated efficiently into PAH protein that is capable of converting phenylalanine to tyrosine in vitro. These results demonstrate that the PAH-deficient mouse hepatocytes can be readily reconstituted by retroviral-mediated gene transduction, which is a crucial step towards somatic gene therapy for PKU. |
