PURINE AND PYRIMIDINEMETABOLISM IN MAN X

Esther Zoref-Shani

Oded Sperling

I . INBORN ERRORS OF PURINE METABOLISM

1 . Purine and Pyrimidine Metabolism Between Millennia : What Ha sBeen Accomplished? What Has To Be Done?

1G. Van den Berghe

2 . Cell Type-Specific Differential Expression of Huma nPhosphoribosylpyropshosphate Synthetase (PRPS) Genes

5M .A. Becker, M. Ahme d

3. Mutations in the Hypoxanthine-GuaninePhosphoribosyltransferase Gene in Spanish HPRT Deficien tFamilies

1 1R.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 Phosphoribosyltransferas e(HPRT) Deficiency

1 5J .G. Puig, R .J . Tones, F .A. Mateos, T . Ramos, A .S. Buno, J .

Arcas

5 . Deletion in the Hypoxanthine Phosphoribosyltransferase Gen eCaused by ALU-ALU Recombination in Two Japanes ePatients with Lesch-Nyhan Syndrome

23M. Mizunuma, S . Fujimori, K. Kaneko, N. Kamatani

6 . Novel Genetic Mutations Responsible for the HPRT Deficienc y

and the Clinical Phenotypes in Japanese

2 9

Y . Yamada, M . Nomura, H . Kitoh, N. Wakamatsu, N .

Ogasawara

7. Adenoviruses Encoding HPRT Correct the Biochemica lAbnormalities Fully Only in HPRT-Deficient Human Cel l

Lines: Importance of Species Differences

35

T. Southgate, D. Bain, L .D. Fairbanks, A . Morelli, A. Larregina ,

H.A. Simmonds, M . Castro, P . Lowenstei n

8. Biochemical and Immunological Abnormalities in Purin eNucleoside Phosphorylase Deficient Mice

4 1

E . Arpaia, Y . Gu, I . Dalal, S . Kelly, M. Hershfield, C .M.Roifman, A . Cohen

9. Carrier Erythrocyte Entrapped Adenosine Deaminase Therapy inAdenosine Deaminase Deficiency

47B .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 BoneMarrow Transplantation

5 1L .D . Fairbanks, H .A. Simmonds, J .A. Duley, B. Gaspar, T .

Flood, C . Steward

11 . Adenosine Deaminase-Deficient Mice : Models for The Study o fLymphocyte Development and Adenosine Signaling

5 7M .E . Aldrich, M.R. Blackburn, S .K. Datta, R .E . Kellems

12 . Inhibition of Fetal Thymic Caspases Abrogates the Consequence sof Adenosine Deaminase Deficiency

65C.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 : ACompound Heterozygote Responsible for the CompleteDeficiency

7 1Y. Yamada, H . Goto, N . Ogasawara

14 . Effect of Uridine Administration to a Patient withAdenylosuccinate Lyase Deficiency

75C . Salerno, C . Crifo, P . Curatolo, F . Ciardo

15 . Adenylosuccinate Lyase Deficiency : From the Clinics toMolecular Biology

79S . Marie, V. Race, M.F. Vincent, G. Van den Bergh e

16 . Polymorphic Markrs in the XDH Gene as Diagnostic Tools fo rTyping Classical Xanthinuria

83A. Lagziel, D . Levartovsky, O. Sperling, K . Ichida, H. Peretz

17 . NAPDD Patients Exhibit Altered Electrophoretic Mobility ofCytosolic 5'-Nucleotidase

87M . Trifilo, T . Page

18 . Purines, Lactate and Myoinositol in CSF Might Reflec tExcitotoxicity in Inherited Metabolic Disorders

9 1A. Latini, L. Larovere, R . Dodelson de Kremer

19. Cerebrospinal Fluid Purines, Pyrimidines, Organic Acids andAmino Acids in Neonatal Citrullinaemia

97L. Larovere, A. Latini, C . Depetris-Boldini, C .E. Coronel, R .

Dodelson de Kremer

II . PURINE METABOLISM

20. Purine Nucleotide Catabolism in Rat Liver

10 3E. Marinello, R . Pagani, L . Arezzini, B. Porcelli, G. Cinci, L .

Terzuol i

21. Further Refinement on the Engineering of Adenosin ePhosphorylase from Purine Nucleoside Phosphorylase

107J .T. Maynes, R .G. Yuan, B.M. Phipps, S .A. Litster, K. Leung,

F .F . Snyder

22. Human Guanine Deaminase: Cloning, Expression an d

Characterization

11 1F .F . Snyder, R.G. Yuan, J .C. Bin, K.L. Carter, D.J . McKay

23. The Human NUTD Family of Nucleotide Hydrolases

11 5

A.G. McLennan, J .L. Cartwright, L . Gasmi

24. Inhibitors of NTPDase : Key Players in the Metabolism of

Extracellular Purines

11 9

F.P. Gendron, E . Halbfinger, B. Fischer, A .R. Beaudoin

25. Apoptosis-Inducing Cleavage of Caspases by Trimidox, an

Inhibitor of Ribonucleotide Reductase

12 5

M .Fritzer-Szekeres, C . Luxbacher, Z . Horvath, M. Grusch ,

G. Krupitza, H .L. Elford, T . Szekeres

III . GOUT AND HYPERURICEMIA

26. Increased Visceral Fat Accumulation in Patients with Primar y

Gout

13 1

S . Takahashi, T . Yamamoto, Z . Tsutsumi, Y . Moriwaki, T . Hada

27. Serum Uric Acid Levels and Microalbuminuria in Mil dHypersensitive Patients

13 5R.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 Hear tTransplant Recipients Treated with Mycophenolate Mofetil 13 9

A. Griesmacher, G . Weigel, G. Seebacher, M.M . Müller

29 . Adenine Incorporation in Endothelial Cells

14 5K.K. Kalsi, M . Zych, E . Slominska, Z . Kochan, M .H . Yacoub ,

R.T. Smolenski ,

30 . TNF-a Reduces the Activity of Ecto-5'-Nucleotidase in HumanEndothelial Cells

149K.K. Kalsi, C Lawson, A. McCormack, Z. Kochan, M .H .

Yacoub, R .T. Smolenski

31 . Influence of Age and Heat Stress on Cardiac Function an dNucleotide Levels

15 3C .C. Gray, R .T. Smolenski, M . Amrani, G .L. Taylor, M.H .

Yacoub

32. The Role of 5'-Deoxy-5'-Methylthioadenosine Phosphorylase i nCardiac Adenosine Breakdown and Adenine Production

159E M . Slominska, K.K . Kalsi, M .H. Yacoub and R .T. Smolenski

33 . The Effect of Adenosine Metabolism Inhibition and Nucleotid ePrecursor Supply on Adenosine Production in Human HeartEndothelial Cells

16 3R.T. Smolenski, K.K . Kalsi, C .C. Gray, M. Zych, Z . Kochan,

M.H. Yacoub

34. Enhanced Endogenous Adenosine Production and Protection o fthe Heart after Transplantation

167R.T. Smolenski, O . Raisky, K.K. Kalsi, H . Abunasra, J .

Jayakumar, K. Suzuki, M.H. Yacoub

35. Role of Bovine Hemoglobin Enriched Cardioplegia i nMyocardial Preservation

17 1E. Marinello, A . Tabucchi, F . Miraldi, A. Barretta, F . Rosi, F .

Carlucc i

V. RENAL HANDLING OF PURINE S

36. Identification of the Potential Sensitive Urate/PAH Transporte rfrom LLC-PK1 Kidney Epithelial Cells

17 5F. Spitzenberger, J . Graessler, H-E. Schroede r

37 . Genomic Structure of Galectin-9 Gene . Mutation Analysis of aPutative Human Urate Channel/Transporter

179J. Graessler, F . Spitzenberger, A. Graessler B. Parpart, E .

Kuhlisch, S . Kopprasch, H-E. Schroeder

38. Effect of Losartan and Furosemide on the Urinary Excretion o f

Oxypurinol and Uric Acid

18 5T. Yamamoto, Y. Moriwaki, S . Takahashi, Z . Tsutsumi, T. Hada

VI . PURINERGIC SIGNALLIN G

39 . P2y and P2x Purinoceptors Are Respectively Implicated i n

Endothelium-Dependent Relaxation and Endotheliu m

Independent Contraction In Human Corpus Cavernosum 18 9

F. Staerman, M . Shalev, A . Legrand, B . Lobel, B . Saiag

40. ATP-Triggered Calcium Signals in Human Neutrophils

19 7

C. Crifo, E . Capuozzo, J . Ovadi, C . Salerno

41 . The Role of A1/A3 Adenosine Receptor Activation in Reductio n

of Cardiomyocyte Injury Caused by Hypoxic Stress and i nInduction of Apoptosis in Rat Cardiomyocyte Cultures

20 1A. Shainberg, N . Safran, N . Batas, T. Zinman, A . Isaac, K.

Schwab, B . Akabayov, V . Shneyvays

42 . Blockade of Al Receptors by Caffeine Induces C-fos, Zif-268 andarc Expression in the Striatum through DifferentInteractions with the Dopamine System

20 7D. Dassesse, J .-M . . Vanderwinden, I . Golberg, J .-J .

Vanderhaeghen, S .N. Schiffmann

43 . Role of KATp Channels in the Induction of Ischemic Toleranc eby the `Adenosine Mechanism' in Neuronal Cultures

21 7A. Reshef, O. Sperling, E . Zoref-Shani

44. Adenosine-Induced Caspase Activity in N1E-115 Cells

223S .M. Schrier, A .P . Ijzerman, G .J . Mulder, J .F . Nagelkerke

45 . Effect of Adenosine Receptor Agonists and Antagonists o nTransport of Adenosine in Bovine Heart Microvascula rEndothelial Cells

227J . Barankiewic z

VII . INBORN ERRORS OF PYRIMIDINE METABOLISM

46. Defects of Pyrimidine Degradation : Clinical, Molecular andDiagnostic Aspects

233A.H. van Gennip, A .B .P . van Kuilenburg

47. Confirmation of the Enzyme Defect in the First Case ofß-Ureidopropionase Deficiency

243A.B.P. van Kuilenburg H. van Lenthe, G . Göhlich-Ratmann, B .

Assmann, G.F. Hoffmann, C. Brautigam, A .H. van Gennip

48. Dihydropyrimidine Dehydrogenase (DPD) Deficiency : Nove lMutations in the DPD Gene

247A .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

25 1A .B .P . van Kuilenburg, J. Haasjes, H. Van Lenthe, L .

Zoetekouw, H.R. Waterham, P . Vreken, A .H. van Gennip

50. Isoforms of Human CTP Synthetase

25 7A.B.P. van Kuilenburg, R. Meinsma, P. Vreken, H.R. Waterham,

A.H. van Gennip

VIII. PYRIMIDINE METABOLISM

51 . Polyclonal Antibodies Against the Ultrafast Multisubstrat eDeoxy-ribonucleoside Kinase from Drosophila Melanogaster

263W. Knecht, B . Munch-Petersen, J . Piskur

52. Inhibition and Localizaton of Human and Rat Dihydroorotat eDehydrogenase

267W. Knecht, M. Loffler

IX. ONCOLOGY AND CHEMOTHERAPY

53. 6-Mercaptopurine: Efficacy and Bone Marrow Toxicity i n

Childhood Acute Lymphoblastic Leukemia

27 1

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

277

J . Bierau, A.H. van Gennip, A .B.P. van Kuilenburg

55. Effect of Phosphorylation on Deoxycytidine Kinase Activity

28 1

T. Spasokoukotskaja, Z . Csapo, M . Sasvari-Szekely, S . Virga, I .

Talianidis, S . Eriksson, M . Staub

56. The Role of Deoxycytidine Kinase in Gemcitabine Cytotoxicity 28 7

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 29 1

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

295B. Spilsberg, F . Rise, D . Petersen, J . Nissen-Meyer

59 . Thymidylate Synthase Inhibition Induces P53 Dependent an dIndependent Cell Death

303

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 theExpression of FAS Antigen on Chronic Lymphocyti cLeukaemia Cells

307J. Gora-Tybor, E . Lech-Maranda, J .Z. Blonski, T. Robak

61 . Cyclopentenyl Cytosine Increases the Phosphorylation andIncorporation into DNA of Arabinofuranosyl Cytosine in aMyeloid Leukemic Cell-Line

31 1A.C. Verschuur, A .H. van Gennip, R. Leen, P .A. Voute, A.B.P .

van Kuilenburg,

62 . Cyclopentenyl Cytosine Induces Apoptosis and SecondaryNecrosis in a T-Lymphoblastic Leukemic Cell-Line

319A.C . Verschuur, A .H. van Gennip, J . Brinkman, P .A. Voüte,

A.B .P . van Kuilenburg ,

63 . Thiopurine Methyltransferase : Activity and Genotyping inPatients with Acute Lymphoblastic Leukemia

327C. 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

64. Hyperthermy Increase the Phosphorylation and Decrease theIncorporation of Nucleosides into DNA

33 3G. Keszler, Z . Csapo, T . Spasokoutskaja, M . Sasvari-Szekely ,

S . Virga, A . Demeter, S . Eriksson, M . Staub

65 . Purine Nucleotide Metabolism in Chronic Lymphocyti cLeukemia Lymphocytes

339E . Marinello, F . Carlucci, F . Rosi, A. Tabucchi

66 . Inhibition of DNA Methylation by 5-Aza-2'-Deoxycytidin eCorrelates with Induction of K562 Cells Differentiation

343K. Fabianowska-Majewska, D. Wyczechowska, M. Czyz

67. Evidence of Inhibition of DNA Methylation by Fludarabine

349D. Wyczechowska, M . Czyz, K. Fabianowska-Majewska

68 . The Cytotoxic Effect of Purine Riboside on Cos-7 Cells

35 5K. Tkacz, M. Cioroch, A .C. Skladanowski, W . Makarewic z

69. Methylated and Non Methylated Thiopurine Nucleotide Rati o(Me6-Mpn/6-Tgn) : Usefulness In The Monitoring O fAzathioprine Therapy?

36 1R. Boulieu, T . Dervieux, I . Gallant, M. Sauviat, M. Bertocchi ,

J .F . Mornex,

X. METHODS

70 . Organ Preservation During Experimental Liver Transplantation 36 9

E. Marinello, A . Tabucchi, F . Rosi, G. Gerunda, R . Merenda, R .

Ballarin, D . Neri, F . Carlucc i

71 . Extraction and Purification of Ecto-5'-Nucleotidase from Huma n

Lymphocytes

373

E. Marinello, F. Rosi, A. Tabucchi, F . Carlucci, G . Cinci, M .

Coli, A . Floridi, C . Fin i

72 . HPLC/ESI Tandem-MS of Liquid Urine or Urine Soaked Filte r

Paper Strips for the Detection of Thymine-Uraciluria an d

Dihydropyrimidinuria

37 7

A.H. Van Gennip, H . Van Lenthe, T. Ito, A.H . Bootsma, A .C .

Van Cruchten, Y. Wada, A .B .P . Van Kuilenburg

73 . Screening for Purine and Pyrimidine Disorders using Dried UrineSpots

383

L .D. Fairbanks, E . Escuredo, J .A. Duley, H.A. Simmonds

74 . Determination of Methylated Purine Bases in Urine from HealthySubjects

389E. Marinello, M .C. Di Pietro, R. Leoncini, G . Liso, R . Guerranti ,

G . Cinci, D . Vannoni

75 . Decrease in Urinary Uric Acid Concentrations after Urin eStorage

393Y. Moriwaki, T . Yamamoto, S . Takahashi, J-I . Yamakita, Z .

Tsutsumi, T . Hada

76. Mass Spectrometry for Analysis of Purine and Pyrimidin eCompounds

399K . Lemr, T. Adam, P . Frycak, D . Friedecky

Author Index

405

Subject Index

415