Literature DB >> 2233247

Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

J E Flach1, J K Reichardt, L J Elsas.   

Abstract

We report a revised sequence of a cDNA that encodes a human galactose-1-phosphate uridyl transferase. The cDNA is 1295 bases in length and encodes a 43,000 Mr protein. The sequence was derived from a cDNA clone isolated from a transformed human lymphoblast cell line and amplified in a polymerase chain reaction. The revised sequence reveals a higher degree of amino acid conservation between the human enzyme and the homologous enzymes from Escherichia coli and yeast than was previously thought to exist.

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Year:  1990        PMID： 2233247

Source DB:  PubMed          Journal:  Mol Biol Med        ISSN： 0735-1313


  21 in total

1.  Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia.

Authors:  Gerard T Berry; Louis J Elsas
Journal:  J Inherit Metab Dis       Date:  2010-11-30       Impact factor: 4.982

2.  Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

Authors:  J P Elsevier; L Wells; B B Quimby; J L Fridovich-Keil
Journal:  Proc Natl Acad Sci U S A       Date:  1996-07-09       Impact factor: 11.205

3.  Komrower Lecture. Galactosaemia today: the enigma and the challenge.

Authors:  S Segal
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

4.  Molecular basis for Duarte and Los Angeles variant galactosemia.

Authors:  S D Langley; K Lai; P P Dembure; L N Hjelm; L J Elsas
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

5.  A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

Authors:  Rena Papachristoforou; Petros P Petrou; Hilary Sawyer; Maggie Williams; Anthi Drousiotou
Journal:  JIMD Rep       Date:  2013-09-04

6.  Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Authors:  J K Reichardt; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1991-04-01       Impact factor: 11.205

7.  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

8.  Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

Authors:  N Bresolin; G P Comi; F Fortunato; G Meola; A Gallanti; A Tajana; M Velicogna; E F Gonano; P Ninfali; S Pifferi
Journal:  J Neurol       Date:  1993-05       Impact factor: 4.849

9.  Molecular analysis of 11 galactosemia patients.

Authors:  J K Reichardt
Journal:  Nucleic Acids Res       Date:  1991-12       Impact factor: 16.971

10.  Biochemical and molecular studies of 132 patients with galactosemia.

Authors:  W G Ng; Y K Xu; F R Kaufman; G N Donnell; J Wolff; R J Allen; S Koritala; J K Reichardt
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132
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