Literature DB >> 6303941

Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

R I Kelley, H Harris, W J Mellman.   

Abstract

Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygotes, the ability of IEF to distinguish the residual GALT activity in two different galactosemic fibroblast lines and in revertants from them is demonstrated.

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Year:  1983        PMID： 6303941     DOI： 10.1007/bf00284663

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


  13 in total

1.  THE METABOLISM OF GALACTOSE BY PATIENTS WITH CONGENITAL GALACTOSEMIA.

Authors:  S SEGAL; A BLAIR; H ROTH
Journal:  Am J Med       Date:  1965-01       Impact factor: 4.965

2.  A study of the conditions and mechanism of the diphenylamine reaction for the colorimetric estimation of deoxyribonucleic acid.

Authors:  K BURTON
Journal:  Biochem J       Date:  1956-02       Impact factor: 3.857

3.  Characteristics of galactose-1-phosphate uridyl transferase in intestinal mucosa of normal and galactosemic humans.

Authors:  S Rogers; P G Holtzapple; W J Mellman; S Segal
Journal:  Metabolism       Date:  1970-09       Impact factor: 8.694

4.  Purification of normal and inactive galactosemic galactose-1-phosphate uridylyltransferase from human red cells.

Authors:  G L Dale; G Popják
Journal:  J Biol Chem       Date:  1976-02-25       Impact factor: 5.157

5.  Purification of galactose-1-phosphate uridylyltransferase from human placenta.

Authors:  G R Helmer; V P Williams
Journal:  Arch Biochem Biophys       Date:  1981-09       Impact factor: 4.013

6.  Human red cell galactose 1-phosphate uridylyltransferase: effects of site-specific reagents on catalytic activity.

Authors:  V P Williams; C Fried; G Popják
Journal:  Arch Biochem Biophys       Date:  1981-02       Impact factor: 4.013

7.  Microheterogeneity of human galactose-1-phosphate uridylyl transferase. Isoelectrofocusing results.

Authors:  F Schapira; C Gregori; J Banroques
Journal:  Biochem Biophys Res Commun       Date:  1978-01-30       Impact factor: 3.575

8.  Improved technique for electrophoresis of human galactose-1-p uridyl transferase (EC 2.7.7.12).

Authors:  M C Sparkes; M Crist; R S Sparkes
Journal:  Hum Genet       Date:  1977-12-29       Impact factor: 4.132

9.  Liver galactose-1-phosphate uridyl transferase: activity in normal and galactosemic subjects.

Authors:  S Segal; S Rogers; P G Holtzapple
Journal:  J Clin Invest       Date:  1971-03       Impact factor: 14.808

10.  Reversion from deficiency of galactose-1-phosphate uridylytransferase (GALT) in an SV40-transformed human fibroblast line.

Authors:  P A Benn; R I Kelley; W J Mellman; L Amer; F S Boches; H B Markus; W Nichols; B Hoffman
Journal:  Somatic Cell Genet       Date:  1981-11
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  8 in total

1.  Galactose-1-phosphate uridyl transferase in density-fractionated erythrocytes. Studies of normal and mutant enzymes.

Authors:  R I Kelley; D M Feinberg; S Segal
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

2.  Identification of human red cell glutamate-pyruvate transaminase (GPT) phenotypes by isoelectric focusing.

Authors:  C F Pelzer; R A Norum
Journal:  Am J Hum Genet       Date:  1985-01       Impact factor: 11.025

3.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

4.  A yeast expression system for human galactose-1-phosphate uridylyltransferase.

Authors:  J L Fridovich-Keil; S Jinks-Robertson
Journal:  Proc Natl Acad Sci U S A       Date:  1993-01-15       Impact factor: 11.205

5.  A molecular approach to galactosemia.

Authors:  L J Elsas; S Langley; E M Paulk; L N Hjelm; P P Dembure
Journal:  Eur J Pediatr       Date:  1995       Impact factor: 3.183

6.  On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

Authors:  H C Lin; L T Kirby; W G Ng; J K Reichardt
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

7.  Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Authors:  L J Elsas; S Langley; E Steele; J Evinger; J L Fridovich-Keil; A Brown; R Singh; P Fernhoff; L N Hjelm; P P Dembure
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

8.  Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Authors:  Amanda E Carney; Rebecca D Sanders; Kerry R Garza; Lee Anne McGaha; Lora J H Bean; Bradford W Coffee; James W Thomas; David J Cutler; Natalie L Kurtkaya; Judith L Fridovich-Keil
Journal:  Hum Mol Genet       Date:  2009-02-18       Impact factor: 6.150
  8 in total

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