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• W2153839466 abstract "Human MutationVolume 9, Issue 3 p. 282-285 Mutations in Brief 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, Corresponding Author Ernest Beutler Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037; Fax: 619 554-6927Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037; Fax: 619 554-6927Search for more papers by this authorBeryl Westwood, Beryl Westwood Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037; Fax: 619 554-6927Search for more papers by this authorR van Zwieten, R van Zwieten Central Laboratory of The Netherlands Red Cross, Blood Transfusion Service, 1066 CX Amsterdam, The NetherlandsSearch for more papers by this authorDirk Roos, Dirk Roos Central Laboratory of The Netherlands Red Cross, Blood Transfusion Service, 1066 CX Amsterdam, The NetherlandsSearch for more papers by this author Ernest Beutler, Corresponding Author Ernest Beutler Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037; Fax: 619 554-6927Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037; Fax: 619 554-6927Search for more papers by this authorBeryl Westwood, Beryl Westwood Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California 92037; Fax: 619 554-6927Search for more papers by this authorR van Zwieten, R van Zwieten Central Laboratory of The Netherlands Red Cross, Blood Transfusion Service, 1066 CX Amsterdam, The NetherlandsSearch for more papers by this authorDirk Roos, Dirk Roos Central Laboratory of The Netherlands Red Cross, Blood Transfusion Service, 1066 CX Amsterdam, The NetherlandsSearch for more papers by this author First published: 07 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-ZCitations: 15AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Baronciani L, Beutler E (1993) Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. Proc Nad Acad Sci USA 90: 4324– 4327, Baronciani L, Magalhes IQ, Mahoney DH Jr, et al. (1995) Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia. Blood Cells Mol Dis 21: 49– 55. Beutler E, Baronciani L (1996) Mutations in pyruvate kinase. Hum Mutat 7: 1– 6. Brewer GJ (1965) A new inherited abnormality of human erythrocytes—elevated erythrocytic adenosine triphosphate. Biochem Biophys Res Commun 18: 430– 434. Busch D (1970) Oberhohter Erythrocyten-ATP-spiegel-merkmal einer hereditären nichtsphärocytären hämolytischen Anämie bei gestörter ATP-Utilisation und einer Stoffwechselanomalie roter Zellen ohne Krankheitswert. Klin Wochenschr 48: 543– 550. Dale GL, Norenberg SL (1989) Time-dependent loss of adenosine 5′ -monophosphate deaminase activity may explain elevated adenosine 5′ -triphosphate levels in senescent erythrocytes. Blood 74: 2157– 2160. Inoue H, Noguchi T, Tanaka T (1986) Complete amino acid sequence of rat L-type pyruvate kinase deduced from the cDNA sequence. Eur J Biochem 154: 465– 469. Kanno H, Fujii H, Hirono A, Omine M, Miwa S (1992) Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. Blood 79: 1347– 1350. Kechemir D, Max-Audit I, Rosa R (1989) Comparative study of human M2-type pyruvate kinases isolated from human leukocytes and erythrocytes of a patient with red cell pyruvate kinase hyper-activity. Enzyme 41: 121– 130. Kuo CF, McRee DE, Fisher CL, O'Handley SF, Cunningham RP, Tainer JA (1992) Atomic structure of the DNA repair [4Fe-4S] enzyme endonuclease III. Science 258: 434– 440. Lone YC, Simon MP, Kahn A, Marie J (1986) Complete nucleotide and deduced amino acid sequences of rat L-type pyruvate kinase. FEBS Lett 195: 97– 100. Max-Audit I, Rosa R, Marie J (1980) Pyruvate kinase hyperactivity genetically determined: Metabolic consequences and molecular characterization. Blood 56: 902– 909. Miwa S, Boivin P, Blume KG, Black JA, Kahn A, Staal GE, Nakashima K, Tanaka KR, Paglia DE, Valentine WN, Yoshida A, Beutler E (1979) Recommended methods for the characterization of red cell pyruvate kinase variants. Br J Haematol 43: 275– 286. Oelshlegel FJ, Sander BJ, Brewer GJ (1975) Role of in vivo pyruvate kinase activity: A. Inheritance of elevated red cell ATP levels B. Red cell malarial parasite interactions. Prog Clin Biol Res 1: 199– 218. Ogasawara N, Goto H, Yamada Y, Nishigaki I, Itoh T, Hasegawa I (1984) Complete deficiency of AMP deaminase in human erythrocytes. Biochem Biophys Res Commun 122: 1344– 1349. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Nad Acad Sci USA 86: 2766– 2770. Ouwerkerk R, Van Echteld CJA, Staal GEJ, Rijksen G (1988) Distribution of phosphorylated metabolites and magnesium in the red cells of a patient with hyperactive pyruvate kinase. Blood 72: 1224– 1229. Sasaki R, Ikura K, Katsura S, Chiba H (1976) Regulation of human erythrocyte AMP deaminase by ATP and 2,3-biphosphoglycerate. Agric Biol Chem 40: 1797– 1803. Soderling TR, Schworer CM, El-Maghrabi MR, Pilkis SJ (1986) Phosphorylation of liver pyruvate kinase by Ca++/calmodulindependent protein kinase: Characterization of two phosphorylation sites. Biochem Biophys Res Commun 139: 1017– 1023. Staal GEJ, Jansen G, Roos D (1984) Pyruvate kinase and the “high ATP syndrome”. J Clin Invest 74: 231– 235. Swarup-Mitra S, Ghosh SK (1978) Elevated ATP level, high activity of PK and hereditary spherocytosis—triple erythrocytic anomaly. Indian J Med Res 67: 263– 268. Tani K, Fujii H, Nagata. S, Miwa S (1988) Human liver type pyruvate kinase: Complete amino acid sequence and the expression in mammalian cells. Proc Natl Acad Sci USA 85: 1792– 1795. Zürcher C, Loos JA, Prins HK (1965) Hereditary high ATP content of human erythrocytes. Bibl Haematol 23: 549– 556. Citing Literature Volume9, Issue31997Pages 282-285 ReferencesRelatedInformation" @default.
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