Monogenic traits are not simple: lessons from phenylketonuria.

[1]  R. Stevens,et al.  Structural basis of autoregulation of phenylalanine hydroxylase , 1999, Nature Structural Biology.

[2]  G. J. Kato.  Human genetic diseases of proteolysis , 1999, Human mutation.

[3]  R. Plasterk.  Hershey heaven and Caenorhabditis elegans , 1999, Nature Genetics.

[4]  S. Nigam,et al.  Folding of secretory and membrane proteins. , 1998, The New England journal of medicine.

[5]  H. Möller,et al.  Blood—Brain Barrier Phenylalanine Transport and Individual Vulnerability in Phenylketonuria , 1998, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

[6]  R C Stevens,et al.  Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria. , 1998, European journal of biochemistry.

[7]  R. Stevens,et al.  Structure of Tetrameric Human Phenylalanine Hydroxylase and Its Implications for Phenylketonuria* , 1998, The Journal of Biological Chemistry.

[8]  P. Guldberg,et al.  A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. , 1998, American journal of human genetics.

[9]  C. Scriver.  An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria. , 1998, The Journal of clinical investigation.

[10]  H. Heymans,et al.  Phenylketonuria. The in vivo hydroxylation rate of phenylalanine into tyrosine is decreased. , 1998, The Journal of clinical investigation.

[11]  L. Penrose.  Phenylketonuria – a problem in eugenics , 1998, Annals of human genetics.

[12]  R. Cotton,et al.  Structure/function analysis of the domains required for the multimerisation of phenylalanine hydroxylase. , 1998, Biochimica et biophysica acta.

[13]  F. Hartl,et al.  Protein folding in the cytosol: chaperonin-dependent and -independent mechanisms. , 1998, Trends in biochemical sciences.

[14]  P. Waters,et al.  In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function , 1998, Human mutation.

[15]  P. Waters,et al.  Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH) , 1998, Human mutation.

[16]  L. Elsas,et al.  The Duarte allele impairs biostability of galactose‐1‐phosphate uridyltransferase in human lymphoblasts , 1998, Human mutation.

[17]  Piotr M. Nowacki,et al.  PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases , 1998, Nucleic Acids Res..

[18]  P. Waters,et al.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. , 1997, American journal of human genetics.

[19]  R. Stevens,et al.  Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria , 1997, Nature Structural Biology.

[20]  P. Waters,et al.  Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1 , 1997, Pediatric Research.

[21]  D. Brooks.  Protein processing: , 1997, FEBS letters.

[22]  J. Beckmann,et al.  A new dimension for the human genome project: towards comprehensive expression maps , 1997, Nature Genetics.

[23]  M. Boguski,et al.  Genome cross-referencing and XREFdb: Implications for the identification and analysis of genes mutated in human disease , 1997, Nature Genetics.

[24]  S. Betts,et al.  Mutational effects on inclusion body formation. , 1997, Advances in protein chemistry.

[25]  D. Cooper.  Variation in the Human Genome , 1996 .

[26]  T. Flatmark,et al.  Recombinant human phenylalanine hydroxylase is a substrate for the ubiquitin-conjugating enzyme system. , 1996, The Biochemical journal.

[27]  S. Ōmura,et al.  Degradation of a Mutant Secretory Protein, α1-Antitrypsin Z, in the Endoplasmic Reticulum Requires Proteasome Activity* , 1996, The Journal of Biological Chemistry.

[28]  Xavier Estivill,et al.  Complexity in a monogenic disease , 1996, Nature Genetics.

[29]  K. Weiss.  Is there a paradigm shift in genetics? Lessons from the study of human diseases. , 1996, Molecular phylogenetics and evolution.

[30]  T. Flatmark,et al.  PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme , 1996, Human mutation.

[31]  K. Summers.  Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases , 1996, Human mutation.

[32]  V. McKusick.  Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders , 1997 .

[33]  C. Scriver.  Science, medicine and phenylketonuria , 1994, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[34]  K. E. Moore,et al.  A lag in intracellular degradation of mutant alpha 1-antitrypsin correlates with the liver disease phenotype in homozygous PiZZ alpha 1-antitrypsin deficiency. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[35]  Giovanni Romeo,et al.  Phenotypic diversity, allelic series and modifier genes , 1994, Nature Genetics.

[36]  R Hlodan,et al.  Molecular chaperones in protein folding: the art of avoiding sticky situations. , 1994, Trends in biochemical sciences.

[37]  M. Grompe,et al.  The rapid detection of unknown mutations in nucleic acids , 1993, Nature genetics.

[38]  S. Forrest,et al.  Comparison of genotype and intellectual phenotype in untreated PKU patients. , 1993, Journal of medical genetics.

[39]  R. Cotton,et al.  Current methods of mutation detection. , 1993, Mutation research.

[40]  L. Hagenfeldt,et al.  Three Polymorphisms but No Disease-Causing Mutations in the Proximal Part of the Promoter of the Phenylalanine Hydroxylase Gene , 1993, European Journal of Human Genetics.

[41]  U. Lichter-Konecki,et al.  Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene. , 1992, Biochemistry.

[42]  F. Güttler,et al.  Molecular basis of phenotypic heterogeneity in phenylketonuria. , 1991, The New England journal of medicine.

[43]  C. Scriver.  Phenylketonuria--genotypes and phenotypes. , 1991, The New England journal of medicine.

[44]  J. Groffen,et al.  Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes. , 1991, American journal of human genetics.

[45]  S. Fields,et al.  A novel genetic system to detect protein–protein interactions , 1989, Nature.

[46]  C. Laberge,et al.  The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. , 1987, American journal of human genetics.

[47]  A. Green.  Congenital Metabolic Diseases , 1986 .

[48]  M. Salter,et al.  Quantification of the importance of individual steps in the control of aromatic amino acid metabolism. , 1986, The Biochemical journal.

[49]  C. Scriver,et al.  Normal plasma free amino acid values in adults: the influence of some common physiological variables. , 1985, Metabolism: clinical and experimental.

[50]  H. Kacser,et al.  The molecular basis of dominance. , 1981, Genetics.

[51]  F. Vogel,et al.  Human Genetics: Problems and Approaches , 1979 .

[52]  A. Fölling.  Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität. , 1934 .