Literature DB >> 7401130

G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.

S R McCann, A M Smithwick, I J Temperley, K Tipton.   

Abstract

A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Dublin.

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Year:  1980        PMID: 7401130      PMCID: PMC1048545          DOI: 10.1136/jmg.17.3.191

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

Review 1.  Hemolysis in glucose-6-phosphate dehydrogenase deficiency.

Authors:  A G Motulsky
Journal:  Fed Proc       Date:  1972 Jul-Aug

2.  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

  2 in total
  2 in total

1.  Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan.

Authors:  H Fujii; S Miwa; S Takegawa; K Takahashi; A Hirono; T Takizawa; T Morisaki; H Kanno; T Taguchi; J Okamura
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  Blastocystis legumain is localized on the cell surface, and specific inhibition of its activity implicates a pro-survival role for the enzyme.

Authors:  Binhui Wu; Jing Yin; Catherine Texier; Michaël Roussel; Kevin Shyong-Wei Tan
Journal:  J Biol Chem       Date:  2009-11-13       Impact factor: 5.157

  2 in total

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