000008749 001__ 8749
000008749 005__ 20240124114308.0
000008749 0247_ $$2DOI$$a10.6083/7p88ch091
000008749 037__ $$aETD
000008749 245__ $$aGene therapy advancements in murine phenylketonuria (PKU)
000008749 260__ $$bOregon Health and Science University
000008749 269__ $$a2020
000008749 336__ $$aDissertation
000008749 502__ $$bPh.D.
000008749 520__ $$aThe main focus of this dissertation work was to advance gene therapy research for phenylketonuria (PKU). PKU is an inborn error of metabolism characterized by phenylalanine hydroxylase (PAH) deficiency that results in severe neurological damage if left untreated. PAH functions in the liver to metabolize the essential amino acid phenylalanine (Phe), which is taken up in excess through dietary means. The standard of care for PKU is a highly restricted diet that is void of Phe that one must adhere to for life, however the diet is challenging for all and unrealistic for most. The PKU community has voiced their desire for the development of a gene therapy that would, in essence, be a one-time curative treatment for their disease, allowing for a completely liberated diet without the devastating neurological consequences.
000008749 542__ $$fIn copyright - single owner
000008749 650__ $$aGene Editing$$012069
000008749 650__ $$aGenetic Therapy$$028314
000008749 6531_ $$acrispr cas systems
000008749 6531_ $$ainborn errors metabolism
000008749 6531_ $$aadeno-associated virus
000008749 6531_ $$acas9 protein
000008749 6531_ $$aphenylketonuria
000008749 691__ $$aSchool of Medicine$$041369
000008749 692__ $$aDepartment of Molecular and Medical Genetics$$041428
000008749 7001_ $$aRichards, Daelyn Y.
000008749 8564_ $$92c0ceede-b432-4ebc-ab38-4217190d1b4a$$s5629255$$uhttps://digitalcollections.ohsu.edu/record/8749/files/Richards.Daelyn.2020.pdf
000008749 905__ $$a/rest/prod/7p/88/ch/09/7p88ch091
000008749 909CO $$ooai:digitalcollections.ohsu.edu:8749$$pstudent-work
000008749 980__ $$aTheses and Dissertations