Literature DB >> 7450748

Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France.

C Picat, J Etiemble, P Boivin, P Y Le Prise.   

Abstract

A new variant of G6PD with total enzyme deficiency associated with nonspherocytic hemolytic anemia in a 60 year old Frenchman is characterized. Partially purified enzyme revealed slow electrophoretic mobility, decreased G6P affinity, thermal instability, abnormal pH curve with a single peak at pH 5.0, abnormal utilization of 2-deoxy-G6P and deamino NADP. This variant differs from all previously reported variants associated with chronic nonspherocytic hemolytic anemia. Accordingly this variant is designated Gd(-) Rennes.

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Year:  1980        PMID： 7450748     DOI： 10.1007/bf00329139

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


  12 in total

1.  A single amino Acid substitution (asparagine to aspartic Acid) between normal (b+) and the common negro variant (a+) of human glucose-6-phosphate dehydrogenase.

Authors:  A Yoshida
Journal:  Proc Natl Acad Sci U S A       Date:  1967-03       Impact factor: 11.205

2.  Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.

Authors:  E Beutler; A Yoshida
Journal:  Ann Hum Genet       Date:  1973-10       Impact factor: 1.670

Review 3.  Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group.

Authors: 
Journal:  World Health Organ Tech Rep Ser       Date:  1967

4.  Human glucose-6-phosphate dehydrogenase variants.

Authors:  A Yoshida; E Beutler; A G Motulsky
Journal:  Bull World Health Organ       Date:  1971       Impact factor: 9.408

5.  Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease.

Authors:  E Beutler; C K Mathai; J E Smith
Journal:  Blood       Date:  1968-02       Impact factor: 22.113

6.  [New variants of erythrocyte glucose-6-phosphate dehydrogenase].

Authors:  P Boivin; C Galand
Journal:  Rev Fr Etud Clin Biol       Date:  1968-01

7.  Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.

Authors:  A Yoshida; E Beutler
Journal:  Ann Hum Genet       Date:  1978-01       Impact factor: 1.670

8.  [Hemolytic congenital nonspherocytic anemia secondary to an erythrocyte glucose-6-phosphate dehydrogenase deficiency. Description of 2 new variants: Gd (-) Saint-Louis (Paris) and Gd (-) Hayem].

Authors:  A Kahn; M Boulard; J Hakim; G Schaison; P Boivin; J Bernard
Journal:  Nouv Rev Fr Hematol       Date:  1974 Sep-Oct

9.  [Chronic haemolytic anemia due to a defect of glucose-6-phosphate dehydrogenase (G6PD) in a Lorraine family. Demonstration of a new type of the enzyme: Gd(-) Nancy].

Authors:  F Streiff; C Vigneron
Journal:  Nouv Rev Fr Hematol       Date:  1971 Mar-Apr

10.  Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production.

Authors:  A Yoshida
Journal:  J Mol Biol       Date:  1970-09-28       Impact factor: 5.469
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  2 in total

1.  Chronic nonspherocytic hemolytic anemia (CNSHA) and glucose 6 phosphate dehydrogenase (G6PD) deficiency in a patient with familial amyloidotic polyneuropathy (FAP). Molecular study of a new variant (G6PD Clinic) with markedly acidic pH optimum.

Authors:  J L Vives-Corrons; M A Pujades; J Petit; D Colomer; M Corbella; J L Aguilar i Bascompte; A Merino
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

2.  Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.

Authors:  S Filosa; N Giacometti; C Wangwei; D De Mattia; D Pagnini; F Alfinito; F Schettini; L Luzzatto; G Martini
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025
  2 in total

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