Article

DNAJC12 stabilizes activated phenylalanine hydroxylase and reduces the concentration of L-Phe needed for activation

2025-07-23

Abstract excerpt

<h4>ABSTRACT</h4> Phenylalanine hydroxylase (PAH) is a tetrahydrobiopterin (BH 4 )-dependent enzyme that converts L-phenylalanine (L-Phe) to L-tyrosine. PAH dysfunction leads to the accumulation of L-Phe in the blood (hyperphenylalaninemia; HPA), which may reach neurotoxic levels, resulting in phenylketonuria (PKU). PKU is associated with pathogenic variants in PAH , most causing misfolding and instability, lea...

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Literature Corpus work: c31be1eb-47ad-50a5-a751-833c775a1b5a
DOI: 10.1101/2025.07.18.665471

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