Literature DB >> 7450761

Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.

P Kuhl, K Olek, P Wardenbach.   

Abstract

Genetic evidence for a dimeric structure of dihydropteridine reductase in man and in the fish species "Cheirodon axelrodi" and "Salmo irideus" is presented. A single locus in man and two loci in the fishes examined encode this enzyme. Zymograms revealed two alleles for the locus in man and two alleles for each locus in the fish "Cheirodon axelrodi". The liver homogenate of a patient with dihydropteridine reductase deficiency showed no detectable activity in the gel, while his parents showed the normal electrophoretic phenotype.

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Year:  1980        PMID： 7450761     DOI： 10.1007/bf00329133

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  Phenylketonuria due to a deficiency of dihydropteridine reductase.

Authors:  S Kaufman; N A Holtzman; S Milstien; L J Butler; A Krumholz
Journal:  N Engl J Med       Date:  1975-10-16       Impact factor: 91.245

2.  Quinonoid dihydropterin reductase from beef liver.

Authors:  K K Korri; D Chippel; M M Chauvin; A Tirpak; K G Scrimgeour
Journal:  Can J Biochem       Date:  1977-11

3.  Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.

Authors:  H Gröbe; K Bartholome; S Milstien; S Kaufman
Journal:  Eur J Pediatr       Date:  1978-09-08       Impact factor: 3.183

4.  The isolation and characterization of dihydropteridine reductase from sheep liver.

Authors:  J E Craine; E S Hall; S Kaufman
Journal:  J Biol Chem       Date:  1972-10-10       Impact factor: 5.157

5.  A naphthoquinone adsorbent for affinity chromatography of human dihydropteridine reductase.

Authors:  R G Cotton; I Jennings
Journal:  Eur J Biochem       Date:  1978-02-01

6.  Separation of leukocytes from blood and bone marrow. Introduction.

Authors:  A Böyum
Journal:  Scand J Clin Lab Invest Suppl       Date:  1968

7.  The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis.

Authors:  K Weber; M Osborn
Journal:  J Biol Chem       Date:  1969-08-25       Impact factor: 5.157

8.  The purification of rat and sheep liver dihydropteridine reductases by affinity chromatography on methotrexate-sepharose.

Authors:  S Webber; T L Deits; W R Snyder; J M Whiteley
Journal:  Anal Biochem       Date:  1978-02       Impact factor: 3.365

9.  Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.

Authors:  S Milstien; N A Holtzman; M E O'Flynn; G H Thomas; I J Butler; S Kaufman
Journal:  J Pediatr       Date:  1976-11       Impact factor: 4.406

10.  Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.

Authors:  A Niederwieser; H C Curtius; O Bettoni; J Bieri; B Schircks; M Viscontini; J Schaub
Journal:  Lancet       Date:  1979-01-20       Impact factor: 79.321
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