Ebook: Purine and Pyrimidine Metabolism in Man VII: Part B: Structural Biochemistry, Pathogenesis and Metabolism

These two volumes record the scientific and clinical work presented at the VIIth International and 3rd European joint symposium on purine and pyrimidine metabolism in man held at the Bournemouth International Conference Centre, Bournemouth, UK, from 30th June to 5th July 1991. The series of international meetings at three yearly intervals have previously been held initially in 1973 in Israel, then Austria, Spain, the Netherlands, USA and Japan. The European Society for the Study of Purine and pyrimidine Metabolism in Man (ESSPPM) which has its own executive and some finance first met in switzerland in 1987, then in Germany in 1989. The steady evolution of the science in this series of meetings is intellectually satisfying; the subsequent clinical progress is emotionally and economically reassuring. As befits the position of purines and pyrimidines at the centre of biochemistry, there has been steady scientific development into molecular genetics and now onto developmental controls and biochemical pharmacology. The complexities of the immune system are being unravelled but an understanding of the human brain largely eludes us. Laboratory based scientists now predominate over those who work as clinical specialists in VIi rheumatology, immunology, oncology and paediatrics. However, there continue to be major clinical objectives since large sections are concerned with major causes of death like ATP depletion, cancer and now AIDS; the laboratory work is providing clinical solutions.

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Content:
Front Matter....Pages i-xix
Capillary Electrophoresis for the Analysis of Cellular Nucleotides....Pages 1-5
An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC....Pages 7-10
A Single HPLC System for the Evaluation of Purine and Pyrimidine Metabolites in Body Fluids....Pages 11-14
Simple Method for the Quantitative Analysis of Dihydropyrimidines and N-Carbamyl-?-Amino Acids in Urine....Pages 15-19
Diagnostic Potential of HPLC: Experimental and Clinical Trials....Pages 21-26
Reference Values of Orotic Acid, Uracil and Pseudouridine in Urine....Pages 27-30
Automated Quantitative Analysis for Orotidine and Uridine/Thymine in Urine by High-Performance Liquid Chromatography with Column Switching....Pages 31-34
HPLC Assay of Uridine Monophosphate Synthase (UMPS) in Chorionic Villus Samples (CVS) and Erythrocytes (RBC)....Pages 35-38
A RP-HPLC Method for the Measurement of Guanine, Other Purine Bases and Nucleosides....Pages 39-42
Some Aspects of Purine Nucleotide Metabolism in Human Lymphocytes before and after Infection with HIV-1 Virus: Nucleotide Content....Pages 43-46
Prenatal Diagnosis of Lesch-Nyhan Syndrome by Purine Analysis of Amniotic Fluid and Cordocentesis....Pages 47-50
Gene Therapy in Man and Mice: Adenosine Deaminase Deficiency, Ornithine Transcarbamylase Deficiency, and Duchenne Muscular Dystrophy....Pages 51-56
Regulation of the Human Adenosine Deaminase Gene by First Intron Sequences: A T-Cell Enhancer....Pages 57-60
Expression of the APRT Gene in an Adenovirus Vector System as a Model for Studying Gene Therapy....Pages 61-66
Transcriptional Regulation of Ribonucleotide Reductase....Pages 67-72
Mutational Basis of Adenine Phosphoribosyltransferase Deficiency....Pages 73-76
Analysis of the Promoter Region of the CHO APRT Gene....Pages 77-81
A Splice Mutation at the Adenine Phosphoribosyltransferase Locus Detected in a German Family....Pages 83-86
Germline and Somatic Mutations Leading to Adenine Phosphoribosyltransferase (APRT) Deficiency....Pages 87-90
Long-Term Evolution of Type 1 Adenine Phosphoribosyltransferase (APRT) Deficiency....Pages 91-94
Molecular Analysis of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Japanese Patients....Pages 95-99
HPRT Gene Mutations in a Female Lesch-Nyhan Patient....Pages 101-104
Molecular Analysis of Human hprt Gene Deletions and Duplications....Pages 105-108
Rat Hypoxanthine Phosphoribosyltransferase cDNA Cloning and Sequence Analysis....Pages 109-112
Identification of Two Independent Japanese Mutant HPRT Genes Using the PCR Technique....Pages 113-116
Identification of Distinct PRS1 Mutations in Two Patients with X-Linked Phosphoribosylpyrophosphate Synthetase Superactivity....Pages 117-120
Human Phosphoribosylpyrophosphate Synthetase (PRS) 2: An Independent Active, X Chromosone-Linked PRS Isoform....Pages 121-124
Rescue of a Lethal Purine Nucleoside Phosphorylase Mutation in the Mouse Via a Second Locus Interaction....Pages 125-128
Genetic Models of Purine Nucleoside Phosphorylase Deficiency in the Mouse....Pages 129-132
A Genetic Defect in Muscle Phosphofructokinase Deficiency, A Typical Clinical Entity Presenting Myogenic Hyperuricemia....Pages 133-136
5?-Nucleotidase — An Overview of the Last Three Years....Pages 137-140
Cytosolic Purine 5?-Nucleotidase from Chicken Heart : An Isozyme of the Liver Enzyme as Evidenced by Antibodies....Pages 141-144
Amplification of T Cell Activation Induced by CD73 (Ecto-5?Nucleotidase) Engagement....Pages 145-150
Studies on the Structure and Biosynthesis of the Phosphatidylinositol-Glycan Anchor and the Carbohydrate Side Chains of Human Placental Ecto-5?-Nucleotidase....Pages 151-154
Diphosphonucleosides are Indispensable Cofactors of AMP-Specific Cytoplasmic 5?-Nucleotidase Catalysed Reaction....Pages 155-158
Adenosine Metabolizing Enzymes in Bull and Man Spermatozoa....Pages 159-161
Cytosolic 5?-Nucleotidase/Phosphotransferase of Human Colon Carcinoma....Pages 163-167
Purine Nucleoside Phosphorylase: Allosteric Regulation of a Dissociating Enzyme....Pages 169-171
Purine Nucleoside Phosphorylase of Bovine Liver Mitochondria....Pages 173-176
Uridine and Purine Nucleoside Phosphorylase Activity in Human and Rat Heart....Pages 177-180
A Comparative Study of the Small Forms of Adenosine Deaminase from Various Organisms....Pages 181-184
Adenosine Deaminase in the Diagnosis of Pleural Effusions....Pages 185-188
Molecular Forms of Human Kidney AMP-Deaminase....Pages 189-193
Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy)....Pages 195-198
Molecular Genetic Analysis of Chromosome 9p in Methylthioadenosine Phosphorylase Deficient Glioma Cell Lines....Pages 199-202
S-Adenosylhomocysteine Hydrolase Activity in Erythrocytes from HIV-Infected Patients....Pages 203-205
Purification and Characterization of Recombinant Rat Phosphoribosylpyrophosphate Synthetase Subunit I and Subunit II....Pages 207-211
Rapid Purification of a Bifunctional Protein Complex Possessing Phosphoribosylaminoimidazole Carboxylase (EC 4.1.1.21) and Phosphoribosylaminoimidazolesuccinocarboxamide Synthetase (EC 6.3.2.6) Activities....Pages 213-217
Highest ADA Expressing Mouse Tissues Also Exhibit Cell-Type Specific Coordinate Up-Regulation of Purine Degradative Enzymes....Pages 219-222
Cytidine Deaminase: A Rapid Method of Purification and Some Properties of the Enzyme from Human Placenta....Pages 223-227
Expression and Substrate Specificities of Human Thymidine Kinase 1, Thymidine Kinase 2 and Deoxycytidine Kinase....Pages 229-233
Pyrimidine 5?-Nucleotidase (S) of Human Erythrocytes: Enzymatic and Molecular Characterization....Pages 235-238
Possible Metabolic Basis for GTP Depletion in Red Cells of Patients with PRPP Synthetase Superactivity....Pages 239-243
Guanine Metabolism in Primary Rat Neuronal Cells....Pages 245-248
Urinary Pterins in Lesch-Nyhan Syndrome....Pages 249-252
Basis for the Chondro-Osseous Dysplasia Associated with Adenosine Deaminase Deficiency: Selective Toxicity to Immature Chondrocytes....Pages 253-256
Analysis of Forebrain Dopaminergic Pathways in HPRT — Mice....Pages 257-260
Absence of dGTP Accumulation and Compensatory Loss of Deoxyguanosine Kinase in Purine Nucleoside Phosphorylase Deficient Mice....Pages 261-264
Adenylosuccinase Activity and Succinylpurine Production in Fibroblasts of Adenylosuccinase-Deficient Children....Pages 265-268
Purine Nucleotide Cycle, Molecular Defects and Therapy....Pages 269-272
IMP Dehydrogenase and GTP as Targets in Human Leukemia Treatment....Pages 273-276
Guanine Ribonucleotide Depletion Inhibits T Cell Activation....Pages 277-280
Raised IMP-Dehydrogenase Activity in the Erythrocytes of a Case of Purine Nucleoside Phosphorylase (PNP) Deficiency....Pages 281-286
Guanine Ribonucleotide Metabolism and the Regulation of Myelopoiesis....Pages 287-292
Pyrimidine Pathways: News Concerning the Mechanism of Orotidine-5?-Monophosphate Decarboxylase....Pages 293-296
Dihydropyrimidine Dehydrogenase Deficiency in a Hutterite Newborn....Pages 297-300
Superactive UMP Hydrolase: Cause or Consequence of Haemolytic Anaemia?....Pages 301-304
NAD Synthesis in Human Erytrhocytes: Study of Adenylyl Transferase Activities in Patients Bearing Purine Enzyme Disorders....Pages 305-310
Pyridine Nucleotide Metabolism: Purine and Pyrimidine Interconnections....Pages 311-314
NAD Synthesis in ADA Deficient Erythrocytes of the Opossum Didelphis Virginiana....Pages 315-318
Pyridine Nucleotide Metabolism: Purification and Properties of NMN Adenylyltransferase from Human Placenta....Pages 319-322
NAD Synthesis in Human Erythrocytes: Determination of the Activities of Some Enzymes....Pages 323-328
Applications of PRPP Metabolism in Human Erythrocytes....Pages 329-332
A Syndrome of Megaloblastic Anemia, Immunodeficiency, and Excessive Nucleotide Degradation....Pages 333-336
Adenine Nucleotide Catabolism in the Erythrocytes of Uraemic Patients....Pages 337-340
Nucleotide Catabolism in Red Blood Cells of Rabbit....Pages 341-343
Aicariboside Inhibits Gluconeogenesis in Isolated Rat Hepatocytes....Pages 345-348
Z-Nucleotides Formation in Human and Rat Cells....Pages 349-352
Purine Metabolism in Regenerating Liver-Bearing Rats....Pages 353-356
Purine Nucleotide Synthesis in Rat Liver after Castration....Pages 357-358
Incorporation of Purine Ribonucleotides into Nucleic Acids of Rat Liver after Castration....Pages 359-362
The Effect of Pyrroline-5-Carboxylate on R5P and PRPP Generation in Mouse Liver in Vivo....Pages 363-366
Effects of Oral Ribose on Muscle Metabolism during Bicycle Ergometer in Patients with AMP-Deaminase-Deficiency....Pages 367-370
Back Matter....Pages 371-374
....Pages 375-378