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

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

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...

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Bibliographic Details
Main Authors: Erik A. Koppes, Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul-Gonzalez, Megan E. Yates, Dale W. Lewis, Susanne M. Gollin, Yijen L. Wu, Shawn E. Christ, Martine Yerle, Angela Leshinski, Lee D. Spate, Joshua A. Benne, Stephanie L. Murphy, Melissa S. Samuel, Eric M. Walters, Sarah A. Hansen, Kevin D. Wells, Uta Lichter-Konecki, Robert A. Wagner, Joseph T. Newsome, Steven F. Dobrowolski, Jerry Vockley, Randall S. Prather, Robert D. Nicholls
Format: Article
Language:English
Published: American Society for Clinical investigation 2020-10-01
Series:JCI Insight
Subjects:
Genetics
Metabolism
Online Access:https://doi.org/10.1172/jci.insight.141523

Internet

https://doi.org/10.1172/jci.insight.141523

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