Am J Hum Genet. 1976 Sep;28(5):474-81.

A new pyruvate kinase variant (PK Osaka) demonstrated by partial purification and condensation.

Shinohara K, Miwa S, Nakashima K, Oda E, Kageoka T.

Abstract

A qualitative variant of erythrocyte and liver pyruvate kinases (PK Osaka) was detected in a family in which two siblings have extremely low PK activity by semipurification with DEAE cellulose chromatography and subsequent concentration of the enzyme solutions. This was previously reported to be a quantitative variant based on studies of crude tissue preparations. The molecular aberrations were characterized by slow mobility upon electrophoresis, abnormal kinetics for phosphoenolpyruvate, and low affinity for anti-human erythrocyte PK serum. The mutant PK L was similar both electrophoretically and immunologically to PK R.

PMID:: 984043; [PubMed - indexed for MEDLINE]
PMCID:: PMC1685104

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Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki. [J Lab Clin Med. 1977]
Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki.
Nakashima K, Miwa S, Fujii H, Shinohara K, Yamauchi K, Tsuji Y, Yanai M. J Lab Clin Med. 1977 Dec; 90(6):1012-20.
Hemolytic anemia due to pyruvate kinase deficiency: characterization of the enzymatic activity from eight patients. [Am J Hum Genet. 1979]
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Black JA, Rittenberg MB, Bigley RH, Koler RD. Am J Hum Genet. 1979 May; 31(3):300-10.
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Molecular mechanism of erythrocyte pyruvate kinase deficiency.
Kahn A, Marie J, Galand C, Boivin P. Humangenetik. 1975 Oct 7; 29(4):271-80.
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Erythrocyte pyruvate kinase deficiency: characterization of a new variant (PK "Aarau").
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Review Biochemical characterization of four new erythrocyte pyruvate kinase variants. [Acta Haematol. 1994]
Review Biochemical characterization of four new erythrocyte pyruvate kinase variants.
Tegos C, Anagnostoulis G. Acta Haematol. 1994; 92(2):91-6.

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Cited by 1 PubMed Central article

Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells. [Proc Natl Acad Sci U S A. 1988]
Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells.
Tani K, Fujii H, Nagata S, Miwa S. Proc Natl Acad Sci U S A. 1988 Mar; 85(6):1792-5.

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