Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria
- 1 December 1997
- journal article
- research article
- Published by Springer Nature in Nature Structural & Molecular Biology
- Vol. 4 (12) , 995-1000
- https://doi.org/10.1038/nsb1297-995
Abstract
The 2.0 Å crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals a fold similar to that of tyrosine hydroxylase. It provides the first structural view of where mutations occur and a rationale to explain molecular mechanisms of the enzymatic phenotypes in the autosomal recessive disorder phenylketoneuria.Keywords
This publication has 31 references indexed in Scilit:
- Three-dimensional Structures of Free Form and Two Substrate Complexes of an Extradiol Ring-cleavage Type Dioxygenase, the BphC Enzyme fromPseudomonassp. Strain KKS102Journal of Molecular Biology, 1996
- PROCHECK: a program to check the stereochemical quality of protein structuresJournal of Applied Crystallography, 1993
- The cooperative binding of phenylalanine to phenylalanine 4‐monooxygenase studied by 1H‐NMR paramagnetic relaxationEuropean Journal of Biochemistry, 1993
- Model bias in macromolecular crystal structuresActa Crystallographica Section A Foundations of Crystallography, 1992
- MOLSCRIPT: a program to produce both detailed and schematic plots of protein structuresJournal of Applied Crystallography, 1991
- EPR and 1H‐NMR spectroscopic studies on the paramagnetic iron at the active site of phenylalanine hydroxylase and its interaction with substrates and inhibitorsEuropean Journal of Biochemistry, 1991
- Improved methods for building protein models in electron density maps and the location of errors in these modelsActa Crystallographica Section A Foundations of Crystallography, 1991
- Cooperative homotropic interaction of l‐noradrenaline with the catalytic site of phenylalanine 4‐monooxygenaseEuropean Journal of Biochemistry, 1990
- Dictionary of protein secondary structure: Pattern recognition of hydrogen‐bonded and geometrical featuresBiopolymers, 1983
- Kinetics of phenylalamine hydroxylase with analogs of tetrahydrobiopterinBiochemistry, 1973