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The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase

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 h...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8024259/ https://www.ncbi.nlm.nih.gov/pubmed/33824313 http://dx.doi.org/10.1038/s41467-021-22107-1

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