Published in Proc Natl Acad Sci U S A on November 19, 2004
B6-responsive disorders: a model of vitamin dependency. J Inherit Metab Dis (2006) 1.55
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias. J Inherit Metab Dis (2008) 1.54
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. J Clin Invest (2008) 1.26
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. J Inherit Metab Dis (2007) 1.25
Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases. Am J Hum Genet (2007) 1.24
Double blind placebo control trial of large neutral amino acids in treatment of PKU: effect on blood phenylalanine. J Inherit Metab Dis (2007) 1.12
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. Am J Hum Genet (2008) 1.02
Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria. J Inherit Metab Dis (2008) 1.02
Up to date knowledge on different treatment strategies for phenylketonuria. Mol Genet Metab (2011) 1.02
Functional polymorphisms of the brain serotonin synthesizing enzyme tryptophan hydroxylase-2. Cell Mol Life Sci (2006) 0.98
Large neutral amino acids in the treatment of phenylketonuria (PKU). J Inherit Metab Dis (2006) 0.97
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators. J Inherit Metab Dis (2014) 0.92
What we know that could influence future treatment of phenylketonuria. J Inherit Metab Dis (2008) 0.90
Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. J Inherit Metab Dis (2008) 0.88
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency. J Inherit Metab Dis (2006) 0.87
Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria. Eur J Hum Genet (2014) 0.86
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. Hum Mutat (2010) 0.86
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain. Sci Rep (2016) 0.86
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria. Mol Genet Metab (2012) 0.86
Structural features of the regulatory ACT domain of phenylalanine hydroxylase. PLoS One (2013) 0.85
Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulation. PLoS One (2012) 0.85
Using change in plasma phenylalanine concentrations and ability to liberalize diet to classify responsiveness to tetrahydrobiopterin therapy in patients with phenylketonuria. Mol Genet Metab (2011) 0.85
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J Inherit Metab Dis (2010) 0.84
Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase. Proteins (2011) 0.84
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. J Inherit Metab Dis (2011) 0.83
Progress toward cell-directed therapy for phenylketonuria. Clin Genet (2008) 0.83
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria. Pediatr Res (2015) 0.83
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor. J Biol Chem (2010) 0.82
Phenylalanine hydroxylase misfolding and pharmacological chaperones. Curr Top Med Chem (2012) 0.81
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S. JIMD Rep (2012) 0.79
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria. Mol Genet Metab (2011) 0.79
The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria. Neuroimage Clin (2013) 0.79
New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride. Biologics (2010) 0.77
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? JIMD Rep (2011) 0.76
Landscape of protein-small ligand binding modes. Protein Sci (2016) 0.75
Phenylketonuria: translating research into novel therapies. Transl Pediatr (2014) 0.75
Development of the US English version of the phenylketonuria - quality of life (PKU-QOL) questionnaire. Health Qual Life Outcomes (2017) 0.75
Purification, crystallization and crystallographic analysis of Dictyostelium discoideum phenylalanine hydroxylase in complex with dihydrobiopterin and FeIII. Acta Crystallogr Sect F Struct Biol Cryst Commun (2010) 0.75
New protein structures provide an updated understanding of phenylketonuria. Mol Genet Metab (2017) 0.75
Crystallography & NMR system: A new software suite for macromolecular structure determination. Acta Crystallogr D Biol Crystallogr (1998) 169.28
Improved methods for building protein models in electron density maps and the location of errors in these models. Acta Crystallogr A (1991) 119.63
Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med (2002) 3.98
Analysis of reduced forms of biopterin in biological tissues and fluids. Anal Biochem (1980) 3.81
Structural basis of autoregulation of phenylalanine hydroxylase. Nat Struct Biol (1999) 2.67
Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet (1999) 1.67
PAHdb 2003: what a locus-specific knowledgebase can do. Hum Mutat (2003) 1.60
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr (1999) 1.44
High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin. J Mol Biol (2001) 1.41
Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria. Nat Struct Biol (1997) 1.33
Pterin-Dependent Amino Acid Hydroxylases. Chem Rev (1996) 1.32
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab (2004) 1.26
Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria. J Biol Chem (1998) 1.20
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat (2004) 1.19
Oxygen-mediated inactivation of peptide deformylase. J Biol Chem (1998) 1.15
Biopterin cofactor biosynthesis: GTP cyclohydrolase, neopterin and biopterin in tissues and body fluids of mammalian species. Life Sci (1984) 1.12
The structural basis of phenylketonuria. Mol Genet Metab (1999) 1.10
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 (1996) 1.09
Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase. Biochemistry (2000) 1.09
Spectroscopic and kinetic studies of PKU-inducing mutants of phenylalanine hydroxylase: Arg158Gln and Glu280Lys. J Am Chem Soc (2003) 1.03
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol Genet Metab (2002) 0.98
The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency. Ann Neurol (2003) 0.96
Activation of phenylalanine hydroxylase: effect of substitutions at Arg68 and Cys237. Biochemistry (2003) 0.95
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 (1998) 0.94
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype. Mol Genet Metab (2000) 0.93
Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells. Proc Natl Acad Sci U S A (1995) 0.89
Biopterin responsive phenylalanine hydroxylase deficiency. Genet Med (2004) 0.88
Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0 A resolution. Biochemistry (1998) 0.86
Mechanism of dioxygen cleavage in tetrahydrobiopterin-dependent amino acid hydroxylases. Chemistry (2003) 0.86
Successful treatment of phenylketonuria with tetrahydrobiopterin. Eur J Pediatr (2001) 0.85
Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab (2001) 0.84
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Mol Genet Metab (2003) 0.84
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. Mol Genet Metab (2004) 0.84
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Mol Genet Metab (2004) 0.84
Modulation of inducible nitric oxide synthase mRNA stability by tetrahydrobiopterin in vascular smooth muscle cells. Biochem Biophys Res Commun (1998) 0.81
The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase. Mol Genet Metab (2000) 0.79
Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients. J Inherit Metab Dis (2002) 0.79
Recombinant human phenylalanine hydroxylase is a substrate for the ubiquitin-conjugating enzyme system. Biochem J (1996) 0.79
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation. Mol Genet Metab (2002) 0.78
Probing cofactor specificity in phenylalanine hydroxylase by molecular dynamics simulations. J Biomol Struct Dyn (2003) 0.78
Studies on the interaction of a thiol-dependent hydrogen peroxide scavenging enzyme and phenylalanine hydroxylase. Arch Biochem Biophys (1990) 0.77
Genetic implications for newborn screening for phenylketonuria. Clin Perinatol (2001) 0.77
High-resolution crystal structure of an engineered human beta2-adrenergic G protein-coupled receptor. Science (2007) 20.32
GPCR engineering yields high-resolution structural insights into beta2-adrenergic receptor function. Science (2007) 11.74
The 2.6 angstrom crystal structure of a human A2A adenosine receptor bound to an antagonist. Science (2008) 11.74
Structures of the CXCR4 chemokine GPCR with small-molecule and cyclic peptide antagonists. Science (2010) 10.30
Glycoprotein-D-adjuvant vaccine to prevent genital herpes. N Engl J Med (2002) 6.23
Structure of an agonist-bound human A2A adenosine receptor. Science (2011) 6.21
A specific cholesterol binding site is established by the 2.8 A structure of the human beta2-adrenergic receptor. Structure (2008) 6.01
Structural genomics of the Thermotoga maritima proteome implemented in a high-throughput structure determination pipeline. Proc Natl Acad Sci U S A (2002) 6.00
Structure of the human dopamine D3 receptor in complex with a D2/D3 selective antagonist. Science (2010) 5.86
Structure of the human κ-opioid receptor in complex with JDTic. Nature (2012) 5.18
Structure-function of the G protein-coupled receptor superfamily. Annu Rev Pharmacol Toxicol (2012) 3.83
Crystal structure of a lipid G protein-coupled receptor. Science (2012) 3.78
Serial femtosecond crystallography of G protein-coupled receptors. Science (2013) 3.58
Structure of the human histamine H1 receptor complex with doxepin. Nature (2011) 3.48
Structural basis for allosteric regulation of GPCRs by sodium ions. Science (2012) 3.40
Secukinumab in plaque psoriasis--results of two phase 3 trials. N Engl J Med (2014) 3.36
Structure of the CCR5 chemokine receptor-HIV entry inhibitor maraviroc complex. Science (2013) 3.17
Structure of the human smoothened receptor bound to an antitumour agent. Nature (2013) 3.08
Biased signaling pathways in β2-adrenergic receptor characterized by 19F-NMR. Science (2012) 3.07
Structure of the nociceptin/orphanin FQ receptor in complex with a peptide mimetic. Nature (2012) 2.96
Microscale fluorescent thermal stability assay for membrane proteins. Structure (2008) 2.95
Diversity and modularity of G protein-coupled receptor structures. Trends Pharmacol Sci (2011) 2.89
Structure of the human glucagon class B G-protein-coupled receptor. Nature (2013) 2.86
Discovery and characterization of a highly selective FAAH inhibitor that reduces inflammatory pain. Chem Biol (2009) 2.82
Rastering strategy for screening and centring of microcrystal samples of human membrane proteins with a sub-10 microm size X-ray synchrotron beam. J R Soc Interface (2009) 2.69
Molecular evolution of antibody cross-reactivity for two subtypes of type A botulinum neurotoxin. Nat Biotechnol (2006) 2.66
Conserved binding mode of human beta2 adrenergic receptor inverse agonists and antagonist revealed by X-ray crystallography. J Am Chem Soc (2010) 2.62
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Structural features for functional selectivity at serotonin receptors. Science (2013) 2.60
Structural basis of severe acute respiratory syndrome coronavirus ADP-ribose-1''-phosphate dephosphorylation by a conserved domain of nsP3. Structure (2005) 2.55
Structural adaptations in a membrane enzyme that terminates endocannabinoid signaling. Science (2002) 2.50
Helicase-primase inhibitor pritelivir for HSV-2 infection. N Engl J Med (2014) 2.36
Crystal structure of the anti-viral APOBEC3G catalytic domain and functional implications. Nature (2008) 2.36
Severe acute respiratory syndrome coronavirus papain-like protease: structure of a viral deubiquitinating enzyme. Proc Natl Acad Sci U S A (2006) 2.28
Community-wide assessment of GPCR structure modelling and ligand docking: GPCR Dock 2008. Nat Rev Drug Discov (2009) 2.23
Incidence of postherpetic neuralgia after combination treatment with gabapentin and valacyclovir in patients with acute herpes zoster: open-label study. Arch Dermatol (2011) 2.13
Status of GPCR modeling and docking as reflected by community-wide GPCR Dock 2010 assessment. Structure (2011) 2.11
Fusion partner toolchest for the stabilization and crystallization of G protein-coupled receptors. Structure (2012) 2.08
Discovery of new GPCR biology: one receptor structure at a time. Structure (2009) 2.08
Automated sample mounting and alignment system for biological crystallography at a synchrotron source. Structure (2004) 2.00
Structural basis of cell surface receptor recognition by botulinum neurotoxin B. Nature (2006) 1.97
Screening HIV-infected individuals for anal cancer precursor lesions: a systematic review. Clin Infect Dis (2006) 1.94
Shotgun crystallization strategy for structural genomics: an optimized two-tiered crystallization screen against the Thermotoga maritima proteome. Acta Crystallogr D Biol Crystallogr (2003) 1.92
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Structure-based discovery of novel chemotypes for adenosine A(2A) receptor antagonists. J Med Chem (2010) 1.88
Structural basis for molecular recognition at serotonin receptors. Science (2013) 1.86
Genetically encoded chemical probes in cells reveal the binding path of urocortin-I to CRF class B GPCR. Cell (2013) 1.83
Structure of a class C GPCR metabotropic glutamate receptor 1 bound to an allosteric modulator. Science (2014) 1.81
Rapid refinement of crystallographic protein construct definition employing enhanced hydrogen/deuterium exchange MS. Proc Natl Acad Sci U S A (2004) 1.70
Current and potential uses of imiquimod. South Med J (2005) 1.70
Phenylalanine hydroxylase deficiency. Genet Med (2011) 1.66
Stabilization of the human beta2-adrenergic receptor TM4-TM3-TM5 helix interface by mutagenesis of Glu122(3.41), a critical residue in GPCR structure. J Mol Biol (2007) 1.63
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. Proc Natl Acad Sci U S A (2005) 1.60
A structural perspective of the sequence variability within botulinum neurotoxin subtypes A1-A4. J Mol Biol (2006) 1.59
Three-dimensional structure of human tryptophan hydroxylase and its implications for the biosynthesis of the neurotransmitters serotonin and melatonin. Biochemistry (2002) 1.59
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet (2011) 1.57
Designing facial amphiphiles for the stabilization of integral membrane proteins. Angew Chem Int Ed Engl (2007) 1.55
Ligand-dependent perturbation of the conformational ensemble for the GPCR β2 adrenergic receptor revealed by HDX. Structure (2011) 1.54
Crystal structure of botulinum neurotoxin type A in complex with the cell surface co-receptor GT1b-insight into the toxin-neuron interaction. PLoS Pathog (2008) 1.54
Crystal structure of TM1367 from Thermotoga maritima at 1.90 A resolution reveals an atypical member of the cyclophilin (peptidylprolyl isomerase) fold. Proteins (2006) 1.51
Structural plasticity and the evolution of antibody affinity and specificity. J Mol Biol (2003) 1.47
Crystal structure of thy1, a thymidylate synthase complementing protein from Thermotoga maritima at 2.25 A resolution. Proteins (2002) 1.45
Time-controlled microfluidic seeding in nL-volume droplets to separate nucleation and growth stages of protein crystallization. Angew Chem Int Ed Engl (2006) 1.45
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res (2006) 1.43
Association of proinflammatory cytokine gene polymorphisms with susceptibility to otitis media. Pediatrics (2006) 1.42
In situ data collection and structure refinement from microcapillary protein crystallization. J Appl Crystallogr (2005) 1.42
Structure-guided inhibitor design for human FAAH by interspecies active site conversion. Proc Natl Acad Sci U S A (2008) 1.41
Protein biophysical properties that correlate with crystallization success in Thermotoga maritima: maximum clustering strategy for structural genomics. J Mol Biol (2004) 1.40
The crystal structure of the α-neurexin-1 extracellular region reveals a hinge point for mediating synaptic adhesion and function. Structure (2011) 1.39
Dynamics of the beta2-adrenergic G-protein coupled receptor revealed by hydrogen-deuterium exchange. Anal Chem (2010) 1.38
The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics (2003) 1.37
Ligand binding and subtype selectivity of the human A(2A) adenosine receptor: identification and characterization of essential amino acid residues. J Biol Chem (2010) 1.37
Crystal structure and DNA binding of the homeodomain of the stem cell transcription factor Nanog. J Mol Biol (2007) 1.35
The structure of a eukaryotic nicotinic acid phosphoribosyltransferase reveals structural heterogeneity among type II PRTases. Structure (2005) 1.33
In situ X-ray analysis of protein crystals in low-birefringent and X-ray transmissive plastic microchannels. Acta Crystallogr D Biol Crystallogr (2008) 1.32
Crystal structure-based virtual screening for fragment-like ligands of the human histamine H(1) receptor. J Med Chem (2011) 1.30
Crystallization data mining in structural genomics: using positive and negative results to optimize protein crystallization screens. Methods (2004) 1.30
Recent progress in the structure determination of GPCRs, a membrane protein family with high potential as pharmaceutical targets. Methods Mol Biol (2010) 1.27
Proteomics analysis unravels the functional repertoire of coronavirus nonstructural protein 3. J Virol (2008) 1.27
Crystal structure of nonstructural protein 10 from the severe acute respiratory syndrome coronavirus reveals a novel fold with two zinc-binding motifs. J Virol (2006) 1.24
NMR screening and crystal quality of bacterially expressed prokaryotic and eukaryotic proteins in a structural genomics pipeline. Proc Natl Acad Sci U S A (2005) 1.23
L-phenylalanine binding and domain organization in human phenylalanine hydroxylase: a differential scanning calorimetry study. Biochemistry (2002) 1.20
Sphingosine-1-phosphate and its receptors: structure, signaling, and influence. Annu Rev Biochem (2013) 1.20
Phase 3 Studies Comparing Brodalumab with Ustekinumab in Psoriasis. N Engl J Med (2015) 1.20
Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations. Hum Mutat (2004) 1.19
Agonists for 13 trace amine-associated receptors provide insight into the molecular basis of odor selectivity. ACS Chem Biol (2012) 1.19
A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in Canavan mice. Mol Ther (2013) 1.19
Binding and inactivation mechanism of a humanized fatty acid amide hydrolase by alpha-ketoheterocycle inhibitors revealed from cocrystal structures. J Am Chem Soc (2009) 1.18
Microscale NMR screening of new detergents for membrane protein structural biology. J Am Chem Soc (2008) 1.18
Ribonucleocapsid formation of severe acute respiratory syndrome coronavirus through molecular action of the N-terminal domain of N protein. J Virol (2007) 1.18
Single-day, patient-initiated famciclovir therapy for recurrent genital herpes: a randomized, double-blind, placebo-controlled trial. Clin Infect Dis (2005) 1.18
The genesis of high-throughput structure-based drug discovery using protein crystallography. Curr Opin Chem Biol (2002) 1.17
Crystal structure of a PIN (PilT N-terminus) domain (AF0591) from Archaeoglobus fulgidus at 1.90 A resolution. Proteins (2004) 1.17