Article

The structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin

2019-02-15

Abstract excerpt

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 (BH 4 ) that partly acts as a pharmacological chaperone. Here we present the first...

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Literature Corpus work: a1a95918-c1ce-5e9d-beb8-167b504e4819
DOI: 10.1101/552281

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