Crystal Structure of the Ternary Complex of the Catalytic Domain of Human Phenylalanine Hydroxylase with Tetrahydrobiopterin and 3-(2-Thienyl)-l-alanine, and its Implications for the Mechanism of Catalysis and Substrate Activation

Bickel, 1981, Neonatal mass screening for metabolic disorders, Eur. J. Pediatr., 137, 133, 10.1007/BF00441305

Scriver, 2000, PAHdb: A locus-specific knowledgebase, Hum. Mutat., 15, 99, 10.1002/(SICI)1098-1004(200001)15:1<99::AID-HUMU18>3.0.CO;2-P

Flatmark, 1999, Structural insight into the aromatic amino acid hydroxylases and their disease-related mutant forms, Chem. Rev., 99, 2137, 10.1021/cr980450y

Waters, 1998, In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function, Hum. Mutat., 11, 4, 10.1002/(SICI)1098-1004(1998)11:1<4::AID-HUMU2>3.0.CO;2-L

Erlandsen, 1997, Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria, Nature Struct. Biol., 4, 995, 10.1038/nsb1297-995

Fusetti, 1998, Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria, J. Biol. Chem., 273, 16962, 10.1074/jbc.273.27.16962

Erlandsen, 2000, Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase, Biochemisty, 39, 2208, 10.1021/bi992531+

Erlandsen, 1998, Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0Å resolution, Biochemistry, 37, 15638, 10.1021/bi9815290

Kobe, 1999, Structural basis of autoregulation of phenylalanine hydroxylase, Nature Struct. Biol., 6, 442, 10.1038/8247

Erlandsen, 1999, The structural basis of phenylketonuria, Mol. Genet. Metab., 68, 103, 10.1006/mgme.1999.2922

Andersen, 2001, High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its calalytically active Fe(II) form and binary complex with tetrahydrobiopterin, J. Mol. Biol., 314, 279, 10.1006/jmbi.2001.5061

Døskeland, 1984, The effect of ligands of phenylalanine 4-monooxygenase on the cAMP-dependent phosphorylation of the enzyme, J. Biol. Chem., 259, 11242, 10.1016/S0021-9258(18)90854-9

Erlandsen, 1997, Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase, FEBS Letters, 406, 171, 10.1016/S0014-5793(97)00259-7

Goodwill, 1998, Crystal structure of tyrosine hydroxylase with bound cofactor analogue and iron at 2.3Å resolution: self-hydroxylation of Phe300 and the pterin-binding site, Biochemistry, 37, 13437, 10.1021/bi981462g

Goodwill, 1997, Crystal structure of tyrosine hydroxylase at 2.3Å resolution and its implications for inherited neurodegenerative diseases, Nature Struct. Biol., 4, 578, 10.1038/nsb0797-578

Kemsley, 1999, Circular dichroism and magnetic circular dichroism spectroscopy of the catalytically competent ferrous active site of phenylalanine hydroxylase and its interaction with pterin cofactor, J. Am. Chem. Soc., 121, 1528, 10.1021/ja9833063

Daubner, 1997, Characterization of chimeric pterin-dependent hydroxylases: contributions of the regulatory domains of tyrosine and phenylalanine hydroxylase to substrate specificity, Biochemistry, 36, 11574, 10.1021/bi9711137

Daubner, 1999, Site-directed mutants of charged residues in the active site of tyrosine hydroxylase, Biochemistry, 38, 4448, 10.1021/bi983012u

Kappock, 1996, Pterin-dependent amino acid hydroxylases, Chem. Rev., 96, 2659, 10.1021/cr9402034

Chen, 1998, Phenylalanine hydroxylase from Chromobacterium violaceum. Uncoupled oxidation of tetrahydropterin and the role of iron in hydroxylation, J. Biol. Chem., 273, 25594, 10.1074/jbc.273.40.25594

Solomon, 2000, Geometric and electronic structure/function correlations in non-heme iron enzymes, Chem. Rev., 100, 235, 10.1021/cr9900275

Dix, 1988, Mechanism of oxygen activation by pteridine-dependent monooxygenases, Accts Chem. Res., 21, 101, 10.1021/ar00147a002

Haavik, 1987, Isolation and characterization of tetrahydropterin oxidation products generated in the tyrosine 3-monooxygenase (tyrosine hydroxylase) reaction, Eur. J. Biochem., 168, 21, 10.1111/j.1432-1033.1987.tb13381.x

Becke, 1988, Density-functional exchange-energy approximation with correct asymptotic behaviour, Phys. Rev. A, 38, 3098, 10.1103/PhysRevA.38.3098

Dworniczak, 1991, Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria, Genomics, 9, 193, 10.1016/0888-7543(91)90238-A

Loeb, 1997, Spectroscopic characterization of the catalytically competent ferrous site of the resting, activated, and substrate-bound forms of phenylalanine hydroxylase, J. Am. Chem. Soc., 119, 1901, 10.1021/ja962269h

Marota, 1984, Stoichiometric reduction of phenylalanine hydroxylase by its cofactor: a requirement for enzymatic activity, Biochemistry, 23, 1303, 10.1021/bi00301a044

Dix, 1985, Phenylalanine hydroxylase: absolute configuration and source of oxygen of the 4a-hydroxytetrahydropterin species, Biochemistry, 24, 2955, 10.1021/bi00333a022

Benkovic, 1985, On the mechanism of action of phenylalanine hydroxylase, Biochem. Soc. Trans., 13, 436, 10.1042/bst0130436

Fitzpatrick, 1991, Studies of the rate-limiting step in the tyrosine hydroxylase reaction: alternate substrates, solvent isotope effects, and transition-state analogues, Biochemistry, 30, 6386, 10.1021/bi00240a006

Han, 1996, Crystal structure of the biphenyl-cleaving extradiol dioxygenase from a PCB-degrading pseudomonad, Science, 270, 976, 10.1126/science.270.5238.976

Senda, 1996, Three-dimensional structures of free form and two substrate complexes of an extradiol ring-cleavage type dioxygenase, the BphC enzyme from Pseudomonas sp. strain KKS102, J. Mol. Biol., 255, 735, 10.1006/jmbi.1996.0060

Jennings, 2001, Essential role of the N-terminal autoreguatory sequence in the regulation of phenylalanine hydroxylase, FEBS Letters, 488, 196, 10.1016/S0014-5793(00)02426-1

Bjørgo, 1998, Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria, Eur. J. Biochem., 257, 1, 10.1046/j.1432-1327.1998.2570001.x

Svensson, 1992, Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12, Hum. Mutat., 1, 129, 10.1002/humu.1380010208

Weinstein, 1993, A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria, Hum. Genet., 90, 645, 10.1007/BF00202483

Martı́nez, 1995, Expression of recombinant human phenylalanine-hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme, Biochem. J., 306, 589, 10.1042/bj3060589

Knappskog, 1996, Structure/function relationships in human phenylalanine hydroxylase. Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme, Eur. J. Biochem., 242, 813, 10.1111/j.1432-1033.1996.0813r.x

Otwinowski, 1997, Processing of X-ray diffraction data collected in oscillation mode, Methods Enzymol., 276, 307, 10.1016/S0076-6879(97)76066-X

Brünger, 1998, Crystallography & NMR system: a new software suite for macromolecular structure determination, Acta Crystallog. sect. D, 54, 905, 10.1107/S0907444998003254

Kleywegt, 1996, Checking your imagination: applications of the free R value, Structure, 4, 897, 10.1016/S0969-2126(96)00097-4

Martı́nez, 1998, Proton NMR studies on the conformation of the pterin cofactor bound at the active site of recombinant human tyrosine hydroxylase, Pteridines, 9, 44, 10.1515/pteridines.1998.9.1.44

Ramachandran, 1968, Conformation of polypeptides and proteins, Advan. Protein Chem., 23, 283, 10.1016/S0065-3233(08)60402-7

Laskowski, 1993, Procheck—a program to check the stereochemical quality of protein structures, J. Appl. Crystallog., 26, 283, 10.1107/S0021889892009944

Fitzpatrick, 1991, Steady-state kinetic mechanism of rat tyrosine hydroxylase, Biochemistry, 30, 3658, 10.1021/bi00229a010

Luzzati, 1952, Traitement statistique des errors dans la determination des structures cristallines, Acta Crystallog., 5, 802, 10.1107/S0365110X52002161