Literature DB >> 836588

Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate.

W N Valentine, D E Paglia, A P Tartaglia, F Gilsanz.   

Abstract

Hereditary hemolytic anemia, a dominantly transmitted disorder, has affected 12 family members spanning three generations. The concentration of adenosine triphosphate in the red cells was about half that of comparably reticulocyte-rich blood. Since adenosine deaminase and adenosine kinase compete for a common substrate, the greatly increased activity of the former may interfere with nucleotide salvage via the latter.

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Year:  1977        PMID: 836588     DOI: 10.1126/science.836588

Source DB:  PubMed          Journal:  Science        ISSN: 0036-8075            Impact factor:   47.728


  22 in total

Review 1.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Developmental disorder associated with increased cellular nucleotidase activity.

Authors:  T Page; A Yu; J Fontanesi; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1997-10-14       Impact factor: 11.205

3.  Elevated adenosine deaminase activity and hereditary hemolytic anemia. Evidence for abnormal translational control of protein synthesis.

Authors:  E G Chottiner; H J Cloft; A P Tartaglia; B S Mitchell
Journal:  J Clin Invest       Date:  1987-03       Impact factor: 14.808

Review 4.  Clinical and biochemical aspects of uric acid overproduction.

Authors:  J García Puig; F A Mateos
Journal:  Pharm World Sci       Date:  1994-04-15

5.  Hereditary overexpression of adenosine deaminase in erythrocytes: evidence for a cis-acting mutation.

Authors:  E H Chen; A P Tartaglia; B S Mitchell
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

6.  Adenosine deaminase mRNA expression is regulated posttranscriptionally during differentiation of HL-60 cells.

Authors:  T M Berkvens; F Schoute; H van Ormondt; P M Khan; A J van der Eb
Journal:  Nucleic Acids Res       Date:  1987-08-25       Impact factor: 16.971

Review 7.  Diagnosis of red blood cell enzymopathies in infants, children and adolescents.

Authors:  S P Samuel; T D Miale
Journal:  Indian J Pediatr       Date:  1987 May-Jun       Impact factor: 1.967

8.  Adenine ribo- and deoxyribonucleotide metabolism in human erythrocytes, B- and T-lymphocyte cell lines, and monocyte-macrophages.

Authors:  W N Valentine; D E Paglia; S Clarke; B H Morimoto; M Nakatani; R Brockway
Journal:  Proc Natl Acad Sci U S A       Date:  1985-10       Impact factor: 11.205

9.  Adenosine deaminase gene expression is regulated posttranscriptionally in the nucleus.

Authors:  T M Berkvens; F Schoute; H van Ormondt; P Meera Khan; A J van der Eb
Journal:  Nucleic Acids Res       Date:  1988-04-25       Impact factor: 16.971

10.  Effects of deoxycoformycin in mice. III. A murine model reproducing multi-system pathology of human adenosine deaminase deficiency.

Authors:  H Ratech; R Hirschhorn; G J Thorbecke
Journal:  Am J Pathol       Date:  1985-04       Impact factor: 4.307

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