Blar i Bergen Open Research Archive på forfatter "Prestegård, Karina Skjervheim"
-
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase
Aubi Catevilla, Oscar; Prestegård, Karina Skjervheim; K C, Kunwar Jung; Shi, Tie-Jun; Ying, Ming; Grindheim, Ann Kari; Scherer, Tanja; Ulvik, Arve; McCann, Adrian; Spriet, Endy; Thöny, Beat; Martinez, Aurora (Journal article; Peer reviewed, 2021)Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH), leading to systemic accumulation of L-phenylalanine (L-Phe) that may reach neurotoxic levels. A homozygous Pah-R261Q mouse, ... -
Understanding proteostasis dysregulation in phenylketonuria – a paradigm disease for inborn error of metabolism
Prestegård, Karina Skjervheim (Doctoral thesis, 2022-09-06)Fenylketonuria (PKU) er en medfødt stoffskiftesykdom forårsaket av mutasjoner i genet for fenylalanin hydroksylase (PAH), og fører til ustabile og ofte feilfoldete enzymer med nedsatt evne til å metabolisere aminosyren ...