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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Publicat a:JCI Insight
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2020
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7605535/
https://ncbi.nlm.nih.gov/pubmed/33055427
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.141523
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