Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin [Biochemistry]
Phenylalanine hydroxylase (PAH) is a key enzyme in the catabolism of phenylalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental retardation if untreated. Some patients benefit from supplementation with a synthetic formulation of the cofactor tetrahydrobiopterin (BH4) that partly acts...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Marte Innselset Flydal, Martin Alcorlo–Pages, Fredrik Gullaksen Johannessen, Siseth Martinez–Caballero, Lars Skȷarven, Rafael Fernandez–Leiro, Aurora Martinez, Juan A. Hermoso Tags: Biological Sciences Source Type: research
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