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Purine and Pyrimidine Metabolism in Man X

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This volume is the proceedings of the 10th International Symposium on Purine and Pyrimidine Metabolism in Man. Articles included contain data concerning the various aspects of purine and pyrimidine in man. The main topics covered are: normal metabolism of purines and pyrimidines; the inborn errors of purine and pyrimidine metabolism; purinergic signaling; chemotherapy with purine and pyrimidine analogues, renal handling of purines and some methodological approaches for the study of the various aspects of purine and pyrimidine metabolism.

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CONTENTS
I. INBORN ERRORS OF PURINE METABOLISM
1. Purine and Pyrimidine Metabolism Between Millennia: What Has Been Accomplished? What Has To Be Done? G. Van den Berghe
2.Cell Type-Specific Differential Expression of Human Phosphoribosylpyropshosphate Synthetase (PRPS) Genes M.A. Becker, M. Ahmed
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3. Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene in Spanish HPRT Deficient Families11 R.J. Torres, F.A. Mateos, J. Molano, B.S. Gathoff, J.P. O’Neill, R.M. Gundel, L. Trombley, J.G. Puig
4. The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency15 J.G. Puig, R.J. Torres, F.A. Mateos, T. Ramos, A.S. Buno, J. Arcas
5 . Deletion in the Hypoxanthine Phosphoribosyltransferase Gene Caused by ALU-ALU Recombination in Two Japanese Patients with Lesch-Nyhan Syndrome M. Mizunuma, S. Fujimori, K. Kaneko, N. Kamatani
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6.Novel Genetic Mutations Responsible for the HPRT Deficiency and the Clinical Phenotypes in Japanese Y. Yamada, M. Nomura, H. Kitoh, N. Wakamatsu, N. Ogasawara
Contents
7. Adenoviruses Encoding HPRT Correct the Biochemical Abnormalities Fully Only in HPRT-Deficient Human Cell Lines: Importance of Species Differences T. Southgate, D. Bain, L.D. Fairbanks, A. Morelli, A. Larregina, H.A. Simmonds, M. Castro, P. Lowenstein
8. Biochemical and Immunological Abnormalities in Purine Nucleoside Phosphorylase Deficient Mice E. Arpaia, Y. Gu, I. Dalal, S. Kelly, M. Hershfield, C.M. Roifman, A. Cohen
9. Carrier Erythrocyte Entrapped Adenosine Deaminase Therapy in Adenosine Deaminase Deficiency B.E. Bax, M.D. Bain, L.D. Fairbanks, H.A. Simmonds, A.D. Webster, R.A. Chalmers
10.ADA Activity and dATP levels in Erythrocytes after Bone Marrow Transplantation L.D. Fairbanks, H.A. Simmonds, J.A. Duley, B. Gaspar, T. Flood, C. Steward
11.Adenosine Deaminase-Deficient Mice: Models for The Study of Lymphocyte Development and Adenosine Signaling M.E. Aldrich, M.R. Blackburn, S.K. Datta, R.E. Kellems
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12.Inhibition of Fetal Thymic Caspases Abrogates the Consequences of Adenosine Deaminase Deficiency65 C.J. Van De Wiele, S.W. Hooker, A.B. Laurent, J.G. Vaughn M.R. Blackburn, R.E. Kellems, M.S. Hershfield, L.F. Thompson
13.Erythrocyte AMP Deaminase Deficiency in Japanese: A Compound Heterozygote Responsible for the Complete Deficiency Y. Yamada, H. Goto, N. Ogasawara
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Contents
14.Effect of Uridine Administration to a Patient with Adenylosuccinate Lyase Deficiency C. Salerno, C. Crifo, P. Curatolo, F. Ciardo
15.Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology S. Marie, V. Race, M.F. Vincent, G. Van den Berghe
16.Polymorphic Markrs in the XDH Gene as Diagnostic Tools for Typing Classical Xanthinuria A. Lagziel, D. Levartovsky, O. Sperling, K. Ichida, H. Peretz
17.NAPDD Patients Exhibit Altered Electrophoretic Mobility of Cytosolic 5’-Nucleotidase M. Trifilo, T. Page
18.Purines, Lactate and Myoinositol in CSF Might Reflect Excitotoxicity in Inherited Metabolic Disorders A. Latini, L. Larovere, R. Dodelson de Kremer
19.Cerebrospinal Fluid Purines, Pyrimidines, Organic Acids and Amino Acids in Neonatal Citrullinaemia L. Larovere, A. Latini, C. Depetris-Boldini, C.E. Coronel, R. Dodelson de Kremer
II. PURINE METABOLISM
20.Purine Nucleotide Catabolism in Rat Liver E. Marinello, R. Pagani, L. Arezzini, B. Porcelli, G. Cinci, L. Terzuoli
21.Further Refinement on the Engineering of Adenosine Phosphorylase from Purine Nucleoside Phosphorylase J.T. Maynes, R.G. Yuan, B.M. Phipps, S.A. Litster, K. Leung, F.F. Snyder
22.Human Guanine Deaminase: Cloning, Expression and Characterization F.F. Snyder, R.G. Yuan, J.C. Bin, K.L. Carter, D.J. McKay
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23.The Human NUTD Family of Nucleotide Hydrolases A.G. McLennan, J.L. Cartwright, L. Gasmi
24.Inhibitors of NTPDase: Key Players in the Metabolism of Extracellular Purines F.P. Gendron, E. Halbfinger, B. Fischer, A.R. Beaudoin
25.Apoptosis-Inducing Cleavage of Caspases by Trimidox, an Inhibitor of Ribonucleotide Reductase M.Fritzer-Szekeres, C. Luxbacher, Z. Horvath, M. Grusch, G. Krupitza, H.L. Elford, T. Szekeres
III. GOUT AND HYPERURICEMIA
Contents
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26.Increased Visceral Fat Accumulation in Patients with Primary Gout131 S. Takahashi, T. Yamamoto, Z. Tsutsumi, Y. Moriwaki, T. Hada
27.Serum Uric Acid Levels and Microalbuminuria in Mild Hypersensitive Patients 135 R.J. Torres, M.A. Martinez, T. Sancho, A.. Moreno, R. Cabrera, A. Aguirre, A. Torre, A. Nevado, J.G. Puig
IV. PURINES IN CARDIOLOGY
28.Guanosine-5’-Triphosphate Increases in Red Blood Cells of Heart Transplant Recipients Treated with Mycophenolate Mofetil 139 A. Griesmacher, G. Weigel, G. Seebacher, M.M. Müller
29.Adenine Incorporation in Endothelial Cells K.K. Kalsi, M. Zych, E. Slominska, Z. Kochan, M.H. Yacoub, R.T. Smolenski,
3 0 .TNF-Reduces the Activity of Ecto-5'-Nucleotidase in Human Endothelial Cells K.K. Kalsi, C Lawson, A. McCormack, Z. Kochan, M.H. Yacoub, R.T. Smolenski
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Contents
31.Influence of Age and Heat Stress on Cardiac Function and Nucleotide Levels C.C. Gray, R.T. Smolenski, M. Amrani, G.L. Taylor, M.H. Yacoub
153
32.The Role of 5’-Deoxy-5’-Methylthioadenosine Phosphorylase in Cardiac Adenosine Breakdown and Adenine Production159 E M. Slominska, K.K. Kalsi, M.H. Yacoub and K.T. Smolenski
33.The Effect of Adenosine Metabolism Inhibition and Nucleotide Precursor Supply on Adenosine Production in Human Heart Endothelial Cells163 R.T. Smolenski, K.K. Kalsi, C.C. Gray, M. Zych, Z. Kochan, M.H. Yacoub
34.Enhanced Endogenous Adenosine Production and Protection of the Heart after Transplantation R.T. Smolenski, O. Raisky, K.K. Kalsi, H. Abunasra, J. Jayakumar, K. Suzuki, M.H. Yacoub
35.Role of Bovine Hemoglobin Enriched Cardioplegia in Myocardial Preservation E. Marinello, A. Tabucchi, F. Miraldi, A. Barretta, F. Rosi, F. Carlucci
V. RENAL HANDLING OF PURINES
36.Identification of the Potential Sensitive Urate/PAH Transporter from LLC-PK Kidney Epithelial Cells 1 F. Spitzenberger, J. Graessler, H-E. Schroeder
37.Genomic Structure of Galectin-9 Gene. Mutation Analysis of a Putative Human Urate Channel/Transporter J. Graessler, F. Spitzenberger, A. Graessler B. Parpart, E. Kuhlisch, S. Kopprasch, H-E. Schroeder
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38.Effect of Losartan and Furosemide on the Urinary Excretion of Oxypurinol and Uric Acid185 T. Yamamoto, Y. Moriwaki, S. Takahashi, Z. Tsutsumi, T. Hada
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VI. PURINERGIC SIGNALLING
39.P2y and P2x Purinoceptors Are Respectively Implicated in Endothelium-Dependent Relaxation and Endothelium Independent Contraction In Human Corpus Cavernosum F. Staerman, M. Shalev, A. Legrand, B. Label, B. Saïag
40.ATP-Triggered Calcium Signals in Human Neutrophils C. Crifo, E. Capuozzo, J. Ovadi, C. Salerno
Contents
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41.The Role of A/AAdenosine Receptor Activation in Reduction 1 3 of Cardiomyocyte Injury Caused by Hypoxic Stress and in Induction of Apoptosis in Rat Cardiomyocyte Cultures201 A. Shainberg, N. Safran, N. Balas, T. Zinman, A. Isaac, K. Schwab, B. Akabayov, V. Shneyvays
42.Blockade of AReceptors by Caffeine Induces C-fos, Zif-268 and 1 arcExpression in the Striatum through Different Interactions with the Dopamine System207 D. Dassesse, J.-M.. Vanderwinden, I. Golberg, J.-J. Vanderhaeghen, S.N. Schiffmann
43. Role of KChannels in the Induction of Ischemic Tolerance ATP by the ‘Adenosine Mechanism’ in Neuronal Cultures A. Reshef, O. Sperling, E. Zoref-Shani
44.Adenosine-Induced Caspase Activity in N1E-115 Cells S.M. Schrier, A.P. Ijzerman, G.J. Mulder, J.F. Nagelkerke
45.Effect of Adenosine Receptor Agonists and Antagonists on Transport of Adenosine in Bovine Heart Microvascular Endothelial Cells J. Barankiewicz
VII. INBORN ERRORS OF PYRIMIDINE METABOLISM
46. Defects of Pyrimidine Degradation: Clinical, Molecular and Diagnostic Aspects A.H. van Gennip, A.B.P. van Kuilenburg
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Contents
47.Confirmation of the Enzyme Defect in the First Case of -Ureidopropionase Deficiency A.B.P. van Kuilenburg H. van Lenthe, G. Göhlich-Ratmann, B. Assmann, G.F. Hoffmann, C. Brautigam, A.H. van Gennip
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48.Dihydropyrimidine Dehydrogenase (DPD) Deficiency: Novel Mutations in the DPD Gene247 A.B.P. van Kuilenburg, J. Haasjes, R. Meinsma, H.R. Waterham, P. Vreken, A.H. van Gennip
49.Dihydropyrimidine Dehydrogenase Deficiency and 5-Fluorouracil Associated Toxicity A.B.P. van Kuilenburg, J. Haasjes, H. Van Lenthe, L. Zoetekouw, H.R. Waterham, P. Vreken, A.H. van Gennip
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50.Isoforms of Human CTP Synthetase257 A.B.P. van Kuilenburg, R. Meinsma, P. Vreken, H.R. Waterham, A.H. van Gennip
VIII. PYRIMIDINE METABOLISM
51.Polyclonal Antibodies Against the Ultrafast Multisubstrate Deoxy-ribonucleoside Kinase fromDrosophila Melanogaster W. Knecht, B. Munch-Petersen, J. Piskur
52.Inhibition and Localizaton of Human and Rat Dihydroorotate Dehydrogenase W. Knecht, M. Loffler
IX. ONCOLOGY AND CHEMOTHERAPY
53.6-Mercaptopurine: Efficacy and Bone Marrow Toxicity in Childhood Acute Lymphoblastic Leukemia R.A. De Abreu, L.H.J. Lambooy, K. Ahment, C. Brouwer, J.J Keizer-Garritsen, J.P.M. Bokkerink, F.J.M. Trijbels
54.Recovery of SK-N-BE(2)C Cells from Treatment with Cyclopentenyl Cytosine J. Bierau, A.H. van Gennip, A.B.P. van Kuilenburg
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Contents
55.Effect of Phosphorylation on Deoxycytidine Kinase Activity281 T. Spasokoukotskaja, Z. Csapo, M. Sasvari-Szekely, S. Virga, I. Talianidis, S. Eriksson, M. Staub
56.The Role of Deoxycytidine Kinase in Gemcitabine Cytotoxicity 287 C.L. van der Wilt, J.R. Kroep, A.M. Bergman, W.J.P. Loves, E. Alvarez, I. Talianidis, C.J. van Groeningen, H.M. Pinedo, G.J. Peters
57.Thymidine Phosphorylase in Angiogenesis and Drug Resistance 291 G.J. Peters, M. De Bruin, M. Fukushima, B. Van Triest, K. Hoekman, H. M. Pinedo, S. P. Ackland
58. Secretion of Thymidine by Hybridoma Cells B. Spilsberg, F. Rise, D. Petersen, J. Nissen-Meyer
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59.Thymidylate Synthase Inhibition Induces P53 Dependent and Independent Cell Death303 H.H.J. Backus, D. Wouters, C.L. van der Wilt, C.M. Kuiper, C.J. van Groeningen, H.M. Pinedo, G.J. Peters
60.2-Chlorodeoxyadenosine (2-CDA) Does Not Change the Expression of FAS Antigen on Chronic Lymphocytic Leukaemia Cells J. Gora-Tybor, E. Lech-Maranda, J.Z. Blonski, T. Robak
61.Cyclopentenyl Cytosine Increases the Phosphorylation and Incorporation into DNA of Arabinofuranosyl Cytosine in a Myeloid Leukemic Cell-Line A.C. Verschuur, A.H. van Gennip, R. Leen, P.A. Voute, A.B.P. van Kuilenburg,
62.Cyclopentenyl Cytosine Induces Apoptosis and Secondary Necrosis in a T-Lymphoblastic Leukemic Cell-Line A.C. Verschuur, A.H. van Gennip, J. Brinkman, P.A. Voûte, A.B.P. van Kuilenburg,
63.Thiopurine Methyltransferase: Activity and Genotyping in Patients with Acute Lymphoblastic Leukemia C. Brouwer, J.J. Keizer-Garritsen, L.H.J. Lambooy, K. Ament, P.G.J.H. Ter Riet, R.A. De Abreu, J.P.M. Bökkerink, E.R. Van Wering, A. Van Der Does-Van Den Berg, A.J.P. Veerman, J.P.M.F. Trijbels
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Contents
64.Hyperthermy Increase the Phosphorylation and Decrease the Incorporation of Nucleosides into DNA G. Keszler, Z. Csapo, T. Spasokoutskaja, M. Sasvari-Szekely, S. Virga, A. Demeter, S. Eriksson, M. Staub
65.Purine Nucleotide Metabolism in Chronic Lymphocytic Leukemia Lymphocytes E. Marinello, F. Carlucci, F. Rosi, A. Tabucchi
66.Inhibition of DNA Methylation by 5-Aza-2’-Deoxycytidine Correlates with Induction of K562 Cells Differentiation K. Fabianowska-Majewska, D. Wyczechowska, M. Czyz
67.Evidence of Inhibition of DNA Methylation by Fludarabine D. Wyczechowska, M. Czyz, K. Fabianowska-Majewska
68.The Cytotoxic Effect of Purine Riboside on Cos-7 Cells K. Tkacz, M. Cioroch, A.C. Skladanowski, W. Makarewicz
69.Methylated and Non Methylated Thiopurine Nucleotide Ratio (Me6-Mpn/6-Tgn): Usefulness In The Monitoring Of Azathioprine Therapy? R. Boulieu, T. Dervieux, I. Gallant, M. Sauviat, M. Bertocchi, J.F. Mornex,
X. METHODS
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70.Organ Preservation During Experimental Liver Transplantation369 E. Marinello, A. Tabucchi, F. Rosi, G. Gerunda, R. Merenda, R. Ballarin, D. Neri, F. Carlucci
71.Extraction and Purification of Ecto-5'-Nucleotidase from Human Lymphocytes373 E. Marinello, F. Rosi, A. Tabucchi, F. Carlucci, G. Cinci, M. Coli, A. Floridi, C. Fini
72.HPLC/ESI Tandem-MS of Liquid Urine or Urine Soaked Filter Paper Strips for the Detection of Thymine-Uraciluria and Dihydropyrimidinuria A.H. Van Gennip, H. Van Lenthe, T. Ito, A.H. Bootsma, A.C. Van Cruchten, Y. Wada, A.B.P. Van Kuilenburg
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Contents
73.Screening for Purine and Pyrimidine Disorders using Dried Urine Spots383 L.D. Fairbanks, E. Escuredo, J.A. Duley, H.A. Simmonds
74. Determination of Methylated Purine Bases in Urine from Healthy Subjects389 E. Marinello, M.C. Di Pietro, R. Leoncini, G. Liso, R. Guerranti, G. Cinci, D. Vannoni
75. Decrease in Urinary Uric Acid Concentrations after Urine Storage Y. Moriwaki, T. Yamamoto, S. Takahashi, J-I. Yamakita, Z. Tsutsumi, T. Hada
76. Mass Spectrometry for Analysis of Purine and Pyrimidine Compounds K. Lemr, T. Adam, P. Frycak, D. Friedecky
Author Index
Subject Index
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399
405
415
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