A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.

doi:10.1172/jci.insight.141523

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Article

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.

JCI insight - 15 Oct 2020

Koppes Erik A, Redel Bethany K, Johnson Marie A, Skvorak Kristen J, Ghaloul-Gonzalez Lina, Yates Megan E, Lewis Dale W, Gollin Susanne M, Wu Yijen L, Christ Shawn E, Yerle Martine, Leshinski Angela, Spate Lee D, Benne Joshua A, Murphy Stephanie L, Samuel Melissa S, Walters Eric M, Hansen Sarah A, Wells Kevin D, Lichter-Konecki Uta, Wagner Robert A, Newsome Joseph T, Dobrowolski Steven F, Vockley Jerry, Prather Randall S, Nicholls Robert D

Abstract excerpt

Phenylalanine hydroxylase-deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleterious effects of hyperphenylalaninemia, but adherence to diet is poor in adult and adolescent patients, resulting in characteristic neurobehavioral phenotypes. Thus, an...

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PMID: 33055427
DOI: 10.1172/jci.insight.141523
PMCID: PMC7605535

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