More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in
people with phenylketonuria (PKU). These vary in their consequences for the residual level …

The aromatic amino acid hydroxylases phenylalanine hydroxylase, tyrosine hydroxylase,
and tryptophan hydroxylase are non-heme iron enzymes that catalyze key physiological …

Tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of dopamine
(DA) and other catecholamines, and its dysfunction leads to DA deficiency and …

Mammalian phenylalanine hydroxylase (PheH) is an allosteric enzyme that catalyzes the
first step in the catabolism of the amino acid phenylalanine. Following allosteric activation by …

X-ray scattering is uniquely suited to the study of disordered systems and thus has the
potential to provide insight into dynamic processes where diffraction methods fail. In …

Protein misfolding induced by missense mutations is the source of hundreds of
conformational diseases. The cell quality control may eliminate nascent misfolded proteins …

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 …

Phenylketonuria (PKU) is a genetic disorder caused by variants in the gene encoding
phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine to neurotoxic …

Several mouse models have been developed to study human defects of primary and
secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to …

The multi-domain enzyme phenylalanine hydroxylase (PAH) catalyzes the hydroxylation of
dietary I-phenylalanine (Phe) to I-tyrosine. Inherited mutations that result in PAH enzyme …