Literature DB >> 457121

Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency. An unusual method.

A Kahn, J Marie, J L Vives-Corrons.   

Abstract

The defective PK variant of a patient with a severe form of hemolytic anemia was characterized by its inability to undergo a normal 'proteolytic maturation.' In obligatory heterozygotes it could be proved that red cells contained different PK species, some of them sensitive and the others partially resistant to the action of trypsin.

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Year:  1979        PMID： 457121     DOI： 10.1007/bf00321027

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


  9 in total

1.  ON THE NATURE OF ALLOSTERIC TRANSITIONS: A PLAUSIBLE MODEL.

Authors:  J MONOD; J WYMAN; J P CHANGEUX
Journal:  J Mol Biol       Date:  1965-05       Impact factor: 5.469

2.  Evidence for a postsynthetic proteolytic transformation of human erythrocyte pyruvate kinase into L-type enzyme.

Authors:  J Marie; H Garreau; A Kahn
Journal:  FEBS Lett       Date:  1977       Impact factor: 4.124

3.  Multimolecular forms of pyruvate kinase from rat and other mammalian tissues. I. Electrophoretic studies.

Authors:  K Imamura; T Tanaka
Journal:  J Biochem       Date:  1972-06       Impact factor: 3.387

4.  Significance of the electrophoretic modifications of defective pyruvate kinase variants. Study of six new observations.

Authors:  J Marie; A Zanella; J L Vives-Corrons; A Najman; A Kahn
Journal:  Clin Chim Acta       Date:  1979-04-02       Impact factor: 3.786

5.  Electrophoretic and kinetic studies of mutant erythrocyte pyruvate kinases.

Authors:  K Nakashima; S Miwa; S Oda; T Tanaka; K Imamura
Journal:  Blood       Date:  1974-04       Impact factor: 22.113

6.  The genetic system of the L-type pyruvate kinase forms in man. Subunit structure, interrelation and kinetic characteristics of the pyruvate kinase enzymes from erythrocytes and liver.

Authors:  A Kahn; J Marie; H Garreau; E D Sprengers
Journal:  Biochim Biophys Acta       Date:  1978-03-14

7.  Molecular mechanism of erythrocyte pyruvate kinase deficiency.

Authors:  A Kahn; J Marie; C Galand; P Boivin
Journal:  Humangenetik       Date:  1975-10-07

8.  A Spanish family with erythrocyte pyruvate kinase deficiency: contribution of various immunologic methods in the study of the mutant enzyme.

Authors:  A Kahn; J L Vives-Corron; J Marie; C Galand; P Boivin
Journal:  Clin Chim Acta       Date:  1977-02-15       Impact factor: 3.786

9.  Human erythrocyte pyruvate kinase. Total purification and evidence for its antigenic identity with L-type enzyme.

Authors:  J Marie; A Kahn; P Boivin
Journal:  Biochim Biophys Acta       Date:  1977-03-15
  9 in total
  1 in total

1.  An allele (Pk-1b) from wild-caught mice that affects the activity and kinetics of erythrocyte and liver pyruvate kinase.

Authors:  K J Moore; G Bulfield
Journal:  Biochem Genet       Date:  1981-08       Impact factor: 1.890
  1 in total

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