Article
Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing.
PloS one - 1 Jan 2021
Kaiser Robert A, Carlson Daniel F, Allen Kari L, Webster Dennis A, VanLith Caitlin J, Nicolas Clara T, Hillin Lori G, Yu Yue, Kaiser Catherine W, Wahoff William R, Hickey Raymond D, Watson Adrienne L, Winn Shelley R, Thöny Beat, Kern Douglas R, Harding Cary O, Lillegard Joseph B
Abstract excerpt
Phenylketonuria (PKU) is a metabolic disorder whereby phenylalanine metabolism is deficient due to allelic variations in the gene for phenylalanine hydroxylase (PAH). There is no cure for PKU other than orthotopic liver transplantation, and the standard of care for patients is limited to dietary restrictions and key amino acid supplementation. Therefore, Pah was edited in pig fibroblasts for the generation of PKU...
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