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G E Staal, G Jansen, D Roos
J Clin Invest. 1984;
74(1):231
doi:10.1172/JCI111406
Abstract |
Full text
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T
he erythrocytes of a patient with the so-called "high ATP syndrome" were characterized by a high ATP content and low 2,3-diphosphoglycerate level. The pyruvate kinase activity was specifically increased (about twice the normal level). After separation of the erythrocytes according to age by discontinuous Percoll density centrifugation, the pyruvate kinase activity was found to be increased in all Percoll fractions. Pyruvate kinase of the patient's cells was characterized by a decreased K0.5 for the substrate phosphoenolpyruvate and no inhibition by ATP. The Michaelis constant (Km) value for ADP, the nucleotide specificity, the thermostability, pH optimum, and immunological specific activity were normal. It is concluded that the high pyruvate kinase activity is due to a shift in the R(elaxed) in equilibrium T(ight) equilibrium to the R(elaxed) form.
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(9)
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2008 |
G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP
Ernest Beutler, Beryl Westwood, R van Zwieten, Dirk Roos
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Hum. Mutat.
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1997 |
A logical approach to the investigation of red cell enzymopathies
A.N. Lestas, A.J. Bellingham
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Blood Reviews
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1990 |
Erythrocyte pyruvate kinase deficiency: 11 new cases
A. Zanella, M. B. Colombo, R. Miniero, L. Perroni, T. Meloni, G. Sirchia
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British Journal of Haematology
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1988 |
2,3-DIPHOSPHOGLYCERATE AND 3-PHOSPHOGLYCERATE IN RED CELL PYRUVATE KINASE DEFICIENCY
M. B. Colombo, A. Zanella, G. Sirchia, A. N. Lestas, L. A. Kay, A. J. Bellingham
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British Journal of Haematology
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1988 |
Age dependent behaviour of red cell glycolytic enzymes in haematological disorders
G. Jansen, L. Koenderman, G. Rijksen, K. Punt, A. W. Dekker, G. E. J. Staal
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British Journal of Haematology
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1985 |
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