TY  - GEN
AB  - The 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.
AU  - Richards, Daelyn Y.
DA  - 2020
DO  - 10.6083/7p88ch091
DO  - DOI
ID  - 8749
KW  - Gene Editing
KW  - Genetic Therapy
KW  - crispr cas systems
KW  - inborn errors metabolism
KW  - adeno-associated virus
KW  - cas9 protein
KW  - phenylketonuria
L1  - https://digitalcollections.ohsu.edu/record/8749/files/Richards.Daelyn.2020.pdf
L2  - https://digitalcollections.ohsu.edu/record/8749/files/Richards.Daelyn.2020.pdf
L4  - https://digitalcollections.ohsu.edu/record/8749/files/Richards.Daelyn.2020.pdf
LK  - https://digitalcollections.ohsu.edu/record/8749/files/Richards.Daelyn.2020.pdf
N2  - The 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.
PB  - Oregon Health and Science University
PY  - 2020
T1  - Gene therapy advancements in murine phenylketonuria (PKU)
TI  - Gene therapy advancements in murine phenylketonuria (PKU)
UR  - https://digitalcollections.ohsu.edu/record/8749/files/Richards.Daelyn.2020.pdf
Y1  - 2020
ER  -