{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:57:30Z","timestamp":1791115050108,"version":"4.1.0"},"reference-count":43,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1998,6,1]],"date-time":"1998-06-01T00:00:00Z","timestamp":896659200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5527,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,6]]},"DOI":"10.1086\/301887","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"1302-1311","source":"Crossref","is-referenced-by-count":48,"title":["Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)"],"prefix":"10.1016","volume":"62","author":[{"given":"Beat","family":"Th\u00f6ny","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Neuheiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucja","family":"Kierat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Blaskovics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela H.","family":"Arn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Rebrin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June","family":"Ayling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nenad","family":"Blau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/301887_bib1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1111\/j.1432-1033.1992.tb17167.x","article-title":"7-Substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency","volume":"208","author":"Adler","year":"1992","journal-title":"Eur J Biochem"},{"issue":"Suppl 55","key":"10.1086\/301887_bib2","first-page":"A170","article-title":"Primapterinuria: biochemical characterization and response to tetrahydrobiopterin","author":"Arn","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301887_bib3","series-title":"Chemistry and biology of pteridines and folates","first-page":"565","article-title":"Mechanism of dehydration by the bifunctional protein, 4a-hydroxy-tetrahydropterin dehydratase\/DCoH","author":"Ayling","year":"1997"},{"key":"10.1086\/301887_bib4","series-title":"Advances in experimental medicine and biology: chemistry and biology of pteridines and folates, 338","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/978-1-4615-2960-6_9","article-title":"The mechanism of cofactor regeneration during phenylalanine hydroxylation","author":"Bailey","year":"1993"},{"key":"10.1086\/301887_bib5","doi-asserted-by":"crossref","first-page":"10203","DOI":"10.1021\/ja00146a005","article-title":"Synthesis of 4a-hydroxy-tetrahydropterins and the mechanism of their nonenzymatic dehydration to quinoid dihydropterins","volume":"117","author":"Bailey","year":"1995","journal-title":"J Am Chem Soc"},{"key":"10.1086\/301887_bib6","first-page":"1611","article-title":"A new variant of biopterin deficiency","volume":"15","author":"Blaskovics","year":"1988","journal-title":"N Engl J Med"},{"issue":"Suppl 2","key":"10.1086\/301887_bib7","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1007\/BF03335415","article-title":"Primapterinuria: a new variant of atypical phenylketonuria","volume":"12","author":"Blau","year":"1989","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/301887_bib10","series-title":"Chemistry and biology of pteridines and folates","first-page":"719","article-title":"BIODEF and BIOMDB international databases of tetrahydrobiopterin deficiencies","author":"Blau","year":"1997"},{"key":"10.1086\/301887_bib8","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1007\/BF02435990","article-title":"Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives","volume":"15","author":"Blau","year":"1992","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/301887_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1515\/pteridines.1993.4.1.1","article-title":"Tetrahydrobiopterin deficiency: from phenotype to genotype","volume":"4","author":"Blau","year":"1993","journal-title":"Pteridines"},{"key":"10.1086\/301887_bib12","doi-asserted-by":"crossref","first-page":"11891","DOI":"10.1073\/pnas.89.24.11891","article-title":"Identity of 4a-carbinolamine dehydratase, a component of the phenylalanine hydroxylation system, and DCoH, a transregulator of homeodomain proteins","volume":"89","author":"Citron","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301887_bib13","first-page":"768","article-title":"Mutation on the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism","volume":"53","author":"Citron","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301887_bib14","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1016\/0006-291X(90)91554-6","article-title":"7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase","volume":"172","author":"Curtius","year":"1990","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/301887_bib15","series-title":"Techniques in diagnostic human biochemical genetics","first-page":"377","article-title":"Pterins","author":"Curtius","year":"1991"},{"key":"10.1086\/301887_bib16","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1073\/pnas.88.2.385","article-title":"Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates","volume":"88","author":"Davis","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301887_bib17","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/BF00442213","article-title":"Neonatal hyperphenylalaninemia presumably caused by a new variant of biopterin synthetase deficiency","volume":"147","author":"Dhondt","year":"1988","journal-title":"Eur J Pediatr"},{"key":"10.1086\/301887_bib18","series-title":"Pterins and biogenic amines in neurology, pediatrics and immunology","first-page":"149","article-title":"Excretion of 7-substituted pterins by a hyperphenylalaninemic variant (primapterinuria): administration of tetrahydrobiopterin and sepiapterin","author":"Giudici","year":"1991"},{"key":"10.1086\/301887_bib19","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/0959-437X(93)90030-S","article-title":"Regulation of the HNF-1 homeodomain proteins by DCOH","volume":"3","author":"Hansen","year":"1993","journal-title":"Curr Opin Genet Dev"},{"key":"10.1086\/301887_bib20","doi-asserted-by":"crossref","first-page":"4828","DOI":"10.1016\/S0021-9258(18)53471-2","article-title":"Phenylalanine hydroxylase-stimulating protein\/pterin-4a-carbinolamine dehydratase from rat and human liver","volume":"268","author":"Hauer","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1086\/301887_bib22","doi-asserted-by":"crossref","first-page":"13469","DOI":"10.1073\/pnas.94.25.13469","article-title":"Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1\u03b1","volume":"94","author":"Johnen","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301887_bib21","doi-asserted-by":"crossref","first-page":"12384","DOI":"10.1073\/pnas.92.26.12384","article-title":"Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia","volume":"92","author":"Johnen","year":"1995","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301887_bib23","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1146\/annurev.nu.13.070193.001401","article-title":"New tetrahydrobiopterin-dependent systems","volume":"13","author":"Kaufman","year":"1993","journal-title":"Annu Rev Nutr"},{"key":"10.1086\/301887_bib26","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1111\/j.1432-1033.1996.00858.x","article-title":"Location of the active site and proposed catalytic mechanism of pterin-4a-carbinolamine dehydratase","volume":"241","author":"K\u00f6ster","year":"1996","journal-title":"Eur J Biochem"},{"key":"10.1086\/301887_bib25","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1515\/pteridines.1995.6.3.123","article-title":"Characterization of human pterin-4a-carbinolamine dehydratase\/dimerization cofactor of hepatocyte nuclear factor-1\u03b1, and of the Cys81-mutant involved in hyperphenylalaninaemia","volume":"6","author":"K\u00f6ster","year":"1995","journal-title":"Pteridines"},{"key":"10.1086\/301887_bib24","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1111\/j.1432-1033.1995.tb20714.x","article-title":"Human pterin-4a-carbinolamine dehydratase\/dimerization cofactor of hepatocyte nuclear factor-1\u03b1: characterization and kinetic analysis of wild-type and mutant enzymes","volume":"231","author":"K\u00f6ster","year":"1995","journal-title":"Eur J Biochem"},{"key":"10.1086\/301887_bib27","doi-asserted-by":"crossref","first-page":"10960","DOI":"10.1016\/S0021-9258(17)44370-5","article-title":"Phenylalanine hydroxylase stimulator protein is a 4a-carbinolamine dehydratase","volume":"258","author":"Lazarus","year":"1983","journal-title":"J Biol Chem"},{"key":"10.1086\/301887_bib28","doi-asserted-by":"crossref","first-page":"1762","DOI":"10.1126\/science.1763325","article-title":"Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein","volume":"254","author":"Mendel","year":"1991","journal-title":"Science"},{"key":"10.1086\/301887_bib29","doi-asserted-by":"crossref","first-page":"5801","DOI":"10.1021\/bi00017a011","article-title":"Catalytic characterization of 4a-hydroxytetrahydropterin dehydratase","volume":"34","author":"Rebrin","year":"1995","journal-title":"Biochemistry"},{"key":"10.1086\/301887_bib30","series-title":"Molecular cloning: a laboratory manual","author":"Sambrook","year":"1989"},{"key":"10.1086\/301887_bib33","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/0003-2697(87)90587-2","article-title":"Tricine-sodium dodecyl sulfate-poylacrylamide gel electrophoresis for the separation of proteins in the range from 1 to100 kDa","volume":"166","author":"Sch\u00e4gger","year":"1987","journal-title":"Anal Biochem"},{"key":"10.1086\/301887_bib31","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1126\/science.8128228","article-title":"Regulation of melanin biosynthesis in the human epidermis by tetrahydrobiopterin","volume":"263","author":"Schallreuter","year":"1994","journal-title":"Science"},{"key":"10.1086\/301887_bib32","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0925-4439(94)90027-2","article-title":"Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo","volume":"1226","author":"Schallreuter","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/301887_bib34","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1146\/annurev.ge.28.120194.001041","article-title":"The hyperphenylalaninemias of man and mice","volume":"28","author":"Scriver","year":"1994","journal-title":"Annu Rev Genet"},{"key":"10.1086\/301887_bib35","series-title":"The metabolic and molecular basis of inherited disease","first-page":"1015","article-title":"The hyperphenylalaninemias","author":"Scriver","year":"1995"},{"key":"10.1086\/301887_bib36","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/humu.1380050402","article-title":"Molecular basis of dihydropteridine reductase deficiency","volume":"5","author":"Smooker","year":"1995","journal-title":"Hum Mutat"},{"key":"10.1086\/301887_bib37","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1093\/nar\/25.8.1476","article-title":"The bifunctional DCOH protein binds to HNF1 independently of its 4-a-carbinolamine dehydratase activity","volume":"25","author":"Sourdive","year":"1997","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/301887_bib42","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P","article-title":"Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes","volume":"10","author":"Th\u00f6ny","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1086\/301887_bib39","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/geno.1994.1071","article-title":"Chromosomal location of two human genes encoding tetrahydrobiopterin metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-23.3, and pterin-4a-carbinolamine dehydratase maps to 10q22","volume":"19","author":"Th\u00f6ny","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/301887_bib40","first-page":"782","article-title":"Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase","volume":"54","author":"Th\u00f6ny","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301887_bib41","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1006\/bbrc.1995.1751","article-title":"Characterization of the human PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase\/dimerization cofactor for the transcription factor HNF-1\u03b1","volume":"210","author":"Th\u00f6ny","year":"1995","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/301887_bib38","series-title":"Advances in experimental medicine and biology: chemistry and biology of pteridines and folates, 338","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/978-1-4615-2960-6_20","article-title":"Molecular cloning and recombinant expression of the human liver phenylalanine hydroxylase stimulating factor revealed structural and functional identity to the dimerization cofactor for the nuclear transcription factor HNF-1\u03b1","author":"Th\u00f6ny","year":"1993"},{"key":"10.1086\/301887_bib50","unstructured":"Th\u00f6ny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schl\u00fcter Th, Germann R, et al. Mutations in the pterin-4a-carbinolamine dehydratase gene (PCBD) are causative for a benign form of hyperphenylalaninemia. Hum Genet, in press"},{"key":"10.1086\/301887_bib43","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1515\/pteridines.1993.4.4.159","article-title":"Dihydropteridine reductase","volume":"4","author":"Whiteley","year":"1993","journal-title":"Pteridines"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707627712?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707627712?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,8]],"date-time":"2024-12-08T07:50:22Z","timestamp":1733644222000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707627712"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,6]]},"references-count":43,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1998,6]]}},"alternative-id":["S0002929707627712"],"URL":"https:\/\/doi.org\/10.1086\/301887","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,6]]}}}