CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria

Abstract Phenylketonuria (PKU) is an autosomal recessive inborn error of l-phenylalanine (Phe) metabolism. It is caused by a partial or complete deficiency of the enzyme phenylalanine hydroxylase (PAH), which is necessary for conversion of Phe to tyrosine (Tyr). This metabolic error results in build...

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Autores principales: Kuldeep Singh, Cathleen S. Cornell, Robert Jackson, Mostafa Kabiri, Michael Phipps, Mitul Desai, Robert Fogle, Xiaoyou Ying, Gulbenk Anarat-Cappillino, Sarah Geller, Jennifer Johnson, Errin Roberts, Katie Malley, Tim Devlin, Matthew DeRiso, Patricia Berthelette, Yao V. Zhang, Susan Ryan, Srinivas Rao, Beth L. Thurberg, Dinesh S. Bangari, Sirkka Kyostio-Moore
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/85cf103dd353470493e9b182fec30ee3
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