Literature DB >> 6698555

G6PD Cagliari: a new low activity glucose 6-phosphate dehydrogenase variant characterized by enhanced intracellular lability.

A Morelli, U Benatti, L Guida, A De Flora.   

Abstract

A new variant of human erythrocyte glucose 6-phosphate dehydrogenase (G6PD), designated G6PD Cagliari, has been characterized. It is associated with severe enzyme deficiency and can be placed in Class 2 of the usual tabulation of G6PD variants. The specific activity of this variant is near normal, while its decay within the circulating erythrocytes is very rapid compared with normals. Genetic analysis of the family of the propositus indicated that the two available females are heterozygotes characterized by extremely unbalanced mosaic phenotypes.

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Year:  1984        PMID： 6698555     DOI： 10.1007/bf00275188

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


  20 in total

1.  Separation of erythrocytes according to age on a simplified density gradient.

Authors:  L M Corash; S Piomelli; H C Chen; C Seaman; E Gross
Journal:  J Lab Clin Med       Date:  1974-07

2.  In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency.

Authors:  S Piomelli; L M Corash; D D Davenport; J Miraglia; E L Amorosi
Journal:  J Clin Invest       Date:  1968-04       Impact factor: 14.808

3.  G-6-PD variants: another up-date.

Authors:  A Yoshida; E Beutler
Journal:  Ann Hum Genet       Date:  1983-01       Impact factor: 1.670

4.  Radioimmunoassay and chemical properties of glucose 6-phosphate dehydrogenase and of a specific NADP(H)-binding protein (FX) from human erythrocytes.

Authors:  A de Flora; A Morelli; M Frascio; G Corte; B Curti; M Galliano; C Gozzer; L Minchiotti; C Mareni; G Gaetani
Journal:  Biochim Biophys Acta       Date:  1977-11-07

5.  A new glucose-6-phosphate dehydrogenase deficient variant in a patient with Chediak-Higashi syndrome.

Authors:  J T Prchal; W M Crist; A Malluh; A Vitek; W N Tauxe; A J Carroll
Journal:  Blood       Date:  1980-09       Impact factor: 22.113

6.  Three glucose 6-phosphate dehydrogenase variants found in Japan.

Authors:  S H Miwa; K Nakashima; J Ono; H Fujii; E Suzuki
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

7.  G6PD Napoli and Ferrara II: two new glucose-6-phosphate dehydrogenase variants having similar characteristics but different intracellular lability and specific activity.

Authors:  A De Flora; A Morelli; U Benatti; P Giuntini; A M Ferraris; S Galiano; R Ravazzolo; G F Gaetani
Journal:  Br J Haematol       Date:  1981-07       Impact factor: 6.998

8.  Difference between G-6-PD B and Mahidol: differential stimulation by magnesium chloride.

Authors:  P Phutrakul; V Panich
Journal:  Southeast Asian J Trop Med Public Health       Date:  1973-09       Impact factor: 0.267

9.  Glucose 6-phosphate dehydrogenase variants: a unique variant (G6PD Kobe) showed an extremely increased affinity for galactose 6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Pea Ridge.

Authors:  H Fujii; S Miwa; K Tani; S Takegawa; N Fujinami; K Takahashi; S Nakayama; M Konno; T Sato
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells.

Authors:  L Luzzatto; E A Usanga; U Bienzle; G F Esan; F A Fusuan
Journal:  Science       Date:  1979-09-28       Impact factor: 47.728
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