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Pyruvate kinase deficiency

Clinical Biochemistry, 1990
Pyruvate kinase (PK) deficiency was initially described by Valentine et al. in 1961. Since then, more than 300 cases have been described, including 65 in Japan. PK deficiency is the most common hereditary nonspherocytic hemolytic anemia among several red cell enzyme defects of the Embden-Meyerhof glycolytic pathway.
S, Miwa, H, Fujii
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“Fluorokinase” and pyruvic kinase

Archives of Biochemistry and Biophysics, 1958
Abstract 1. 1. The enzyme catalyzing the CO2-dependent phosphorylation of fluoride by adenosine triphosphate to yield monofluorophosphate, an activity referred to as “fluorokinase,” has been isolated in crystalline form from rabbit muscle extracts. The crystalline enzyme has been found to possess considerable pyruvic kinase activity. 2. 2.
A, TIETZ, S, OCHOA
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Mutations in pyruvate kinase

Human Mutation, 1996
Pyruvate kinase (PK) deficiency due to mutations of the PKLR gene is a common cause of hereditary nonspherocytic hemolytic anemia. Thus far, 55 different mutations have been described in patients with PK-deficient hemolytic anemia. Polymorphisms within the PKLR gene and in the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may ...
E, Beutler, L, Baronciani
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Pyruvate kinase: Function, regulation and role in cancer

open access: yesSeminars in Cell and Developmental Biology, 2015
Pyruvate kinase is an enzyme that catalyzes the conversion of phosphoenolpyruvate and ADP to pyruvate and ATP in glycolysis and plays a role in regulating cell metabolism.
William J Israelsen   +1 more
exaly   +2 more sources

The stereochemistry of pyruvate kinase

Biochemical and Biophysical Research Communications, 1970
Abstract α-Ketobutyrate enol phosphate consisting of approximately 80% cis and 20% trans isomers was prepared by the Perkow reaction. It was converted by pyruvate kinase in 2H2O, to α-ketobutyrate which on oxidative decarboxylation with hydrogen peroxide gave largely (2 R )-2- 2 H-propionate containing one atom of deuterium ...
W E, Bondinell, D B, Sprinson
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Pyruvate kinase deficiency in children

Pediatric Blood & Cancer, 2021
AbstractBackgroundPyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.MethodsAn international, multicenter registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from ...
Satheesh Chonat   +17 more
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Pyruvate kinase electrophoresis in normal and pyruvate kinase deficient hemolysates

Clinica Chimica Acta, 1974
Abstract Two bands of pyruvate kinase activity were demonstrated in normal hemolysates with high voltage electrophoresis at pH 5.3 using cellulose acetate strips. Heterozygotes with red cell pyruvate kinase deficiency also exhibited two bands. Six of ten homozygous patients showed two bands, the remaining four only one band.
B, Wonneberger, W, Schröter
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Evidence for two dinstinct pyruvate kinase genes in Escherichia coli K-12 [PDF]

open access: yesFEBS Letters, 1983
A strain of Escherichia coli K-12 defective in pyruvate kinase F has been produced. The existence of this mutant, in conjunction with earlier results, strongly suggests that the two pyruvate kinases in this bacterium are distinct forms and not ...
Amando Garrido-Pertierra   +2 more
exaly   +2 more sources

Regulation of pyruvate kinase

Advances in Enzyme Regulation, 1969
Abstract The mechanism and sequence of events of the induction of liver pyruvate kinase by sucrose and fructose administration were examined. Actinomycin and cycloheximide prevented the sucrose and fructose induced rise in pyruvate kinase activity.
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Defective erythrocyte pyruvate kinase

Clinica Chimica Acta, 1976
A defective pyruvate kinase (EC 2.7.1.40) is described. The abnormal PK is characterized by a shift in the R in equilibrium T equilibrium to the T-state. The Ko.5 for the substrate phosphoenol pyruvate is about 6 times higher than for the normal enzyme, while the KM value for the positive effector Fru-1, 6-P2 is increased.
G E, Staal   +3 more
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