Article
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Nature communications - 6 Apr 2021
Aubi Oscar, Prestegård Karina S, Jung-Kc Kunwar, Shi Tie-Jun Sten, Ying Ming, Grindheim Ann Kari, Scherer Tanja, Ulvik Arve, McCann Adrian, Spriet Endy, Thöny Beat, Martinez Aurora
Abstract excerpt
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, with a highly prevalent misfolding variant in humans, reveals the expected hepatic PAH activity decrease, systemic L-Phe increase, L-tyrosine and L-tryptophan decrease, and...
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