Aerobic life on our planet relies on the use of molecular oxygen for energy as well as for
biosynthesis of important biological compounds in metabolic pathways. Thermodynamically …

PAHdb, a legacy of and resource in genetics, is a relational locus‐specific database
(http://www. pahdb. mcgill. ca). It records and annotates both pathogenic alleles (n= 439 …

This Handbook on Metalloproteins focuses on the available structural information of proteins
and their metal ion coordination spheres. It centers on the metal ions indispensable for life …

Phenylketonuria (PKU) is a genetic disease caused by mutations in human phenylalanine
hydroxylase (PAH). Most missense mutations result in misfolding of PAH, increased protein …

Phenylalanine hydroxylase catalyzes the stereospecific hydroxylation of l-phenylalanine, the
committed step in the degradation of this amino acid. We have solved the crystal structure of …

A subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor
(tetrahydrobiopterin, BH4) supplementation has been associated with phenylketonuria …

The crystal structures of the catalytic domain (ΔN1-102/ΔC428-452) of human phenylalanine
hydroxylase (hPheOH) in its catalytically competent Fe (II) form and binary complex with the …

The crystal structures of the catalytic domain of human phenylalanine hydroxylase
(hPheOH) in complex with the physiological cofactor 6 (R)-l-erythro-5, 6, 7, 8 …

The crystal structure of the dimeric catalytic domain (residues 118− 424) of human PheOH
(hPheOH), cocrystallized with the oxidized form of the cofactor (7, 8-dihydro-l-biopterin …

Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other
inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the …