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.
Author(s): David Perrett, Gordon Ross (auth.), R. Angus Harkness, Gertrude B. Elion, Nepomuk Zöllner (eds.)
Series: Advances in Experimental Medicine and Biology 309B
Edition: 1
Publisher: Springer US
Year: 1992
Language: English
Pages: 416
Tags: Biochemistry, general
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-ß-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
A Strategy for the Creation of Mutations in Human HPRT-cDNA and the Expression of Recombinant Proteins in E.Coli ....Pages 95-99
Molecular Analysis of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Japanese Patients....Pages 101-104
Expression of Normal and Variant Human Hypoxanthine-Guanine Phosphoribosyltransferase in E. Coli ....Pages 105-108
HPRT Gene Mutations in a Female Lesch-Nyhan Patient....Pages 109-112
Molecular Analysis of Human hprt Gene Deletions and Duplications....Pages 113-116
Rat Hypoxanthine Phosphoribosyltransferase cDNA Cloning and Sequence Analysis....Pages 117-120
Identification of Two Independent Japanese Mutant HPRT Genes Using the PCR Technique....Pages 121-124
Identification of Distinct PRS1 Mutations in Two Patients with X-Linked Phosphoribosylpyrophosphate Synthetase Superactivity....Pages 125-128
Human Phosphoribosylpyrophosphate Synthetase (PRS) 2: An Independent Active, X Chromosone-Linked PRS Isoform....Pages 129-132
Rescue of a Lethal Purine Nucleoside Phosphorylase Mutation in the Mouse Via a Second Locus Interaction....Pages 133-136
Genetic Models of Purine Nucleoside Phosphorylase Deficiency in the Mouse....Pages 137-140
A Genetic Defect in Muscle Phosphofructokinase Deficiency, A Typical Clinical Entity Presenting Myogenic Hyperuricemia....Pages 141-144
5′-Nucleotidase — An Overview of the Last Three Years....Pages 145-150
Cytosolic Purine 5′-Nucleotidase from Chicken Heart : An Isozyme of the Liver Enzyme as Evidenced by Antibodies....Pages 151-154
Amplification of T Cell Activation Induced by CD73 (Ecto-5′Nucleotidase) Engagement....Pages 155-158
Studies on the Structure and Biosynthesis of the Phosphatidylinositol-Glycan Anchor and the Carbohydrate Side Chains of Human Placental Ecto-5′-Nucleotidase....Pages 159-161
Diphosphonucleosides are Indispensable Cofactors of AMP-Specific Cytoplasmic 5′-Nucleotidase Catalysed Reaction....Pages 163-167
Adenosine Metabolizing Enzymes in Bull and Man Spermatozoa....Pages 169-171
Cytosolic 5′-Nucleotidase/Phosphotransferase of Human Colon Carcinoma....Pages 173-176
Purine Nucleoside Phosphorylase: Allosteric Regulation of a Dissociating Enzyme....Pages 177-180
Purine Nucleoside Phosphorylase of Bovine Liver Mitochondria....Pages 181-184
Uridine and Purine Nucleoside Phosphorylase Activity in Human and Rat Heart....Pages 185-188
A Comparative Study of the Small Forms of Adenosine Deaminase from Various Organisms....Pages 189-193
Adenosine Deaminase in the Diagnosis of Pleural Effusions....Pages 195-198
Molecular Forms of Human Kidney AMP-Deaminase....Pages 199-202
Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy)....Pages 203-205
Molecular Genetic Analysis of Chromosome 9p in Methylthioadenosine Phosphorylase Deficient Glioma Cell Lines....Pages 207-211
S-Adenosylhomocysteine Hydrolase Activity in Erythrocytes from HIV-Infected Patients....Pages 213-217
Purification and Characterization of Recombinant Rat Phosphoribosylpyrophosphate Synthetase Subunit I and Subunit II....Pages 219-222
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 223-227
Highest ADA Expressing Mouse Tissues Also Exhibit Cell-Type Specific Coordinate Up-Regulation of Purine Degradative Enzymes....Pages 229-233
Cytidine Deaminase: A Rapid Method of Purification and Some Properties of the Enzyme from Human Placenta....Pages 235-238
Expression and Substrate Specificities of Human Thymidine Kinase 1, Thymidine Kinase 2 and Deoxycytidine Kinase....Pages 239-243
Pyrimidine 5′-Nucleotidase (S) of Human Erythrocytes: Enzymatic and Molecular Characterization....Pages 245-248
GTP Activates Two Enzymes of Pyrimidine Salvage from the Human Intestinal Parasite Giardia Intestinalis ....Pages 249-252
Possible Metabolic Basis for GTP Depletion in Red Cells of Patients with PRPP Synthetase Superactivity....Pages 253-256
Guanine Metabolism in Primary Rat Neuronal Cells....Pages 257-260
Urinary Pterins in Lesch-Nyhan Syndrome....Pages 261-264
Basis for the Chondro-Osseous Dysplasia Associated with Adenosine Deaminase Deficiency: Selective Toxicity to Immature Chondrocytes....Pages 265-268
Analysis of Forebrain Dopaminergic Pathways in HPRT — Mice....Pages 269-272
Absence of dGTP Accumulation and Compensatory Loss of Deoxyguanosine Kinase in Purine Nucleoside Phosphorylase Deficient Mice....Pages 273-276
Adenylosuccinase Activity and Succinylpurine Production in Fibroblasts of Adenylosuccinase-Deficient Children....Pages 277-280
Purine Nucleotide Cycle, Molecular Defects and Therapy....Pages 281-286
IMP Dehydrogenase and GTP as Targets in Human Leukemia Treatment....Pages 287-292
Guanine Ribonucleotide Depletion Inhibits T Cell Activation....Pages 293-296
Raised IMP-Dehydrogenase Activity in the Erythrocytes of a Case of Purine Nucleoside Phosphorylase (PNP) Deficiency....Pages 297-300
Guanine Ribonucleotide Metabolism and the Regulation of Myelopoiesis....Pages 301-304
Pyrimidine Pathways: News Concerning the Mechanism of Orotidine-5′-Monophosphate Decarboxylase....Pages 305-310
Dihydropyrimidine Dehydrogenase Deficiency in a Hutterite Newborn....Pages 311-314
Superactive UMP Hydrolase: Cause or Consequence of Haemolytic Anaemia?....Pages 315-318
NAD Synthesis in Human Erytrhocytes: Study of Adenylyl Transferase Activities in Patients Bearing Purine Enzyme Disorders....Pages 319-322
Pyridine Nucleotide Metabolism: Purine and Pyrimidine Interconnections....Pages 323-328
NAD Synthesis in ADA Deficient Erythrocytes of the Opossum Didelphis Virginiana....Pages 329-332
Pyridine Nucleotide Metabolism: Purification and Properties of NMN Adenylyltransferase from Human Placenta....Pages 333-336
NAD Synthesis in Human Erythrocytes: Determination of the Activities of Some Enzymes....Pages 337-340
Applications of PRPP Metabolism in Human Erythrocytes....Pages 341-343
A Syndrome of Megaloblastic Anemia, Immunodeficiency, and Excessive Nucleotide Degradation....Pages 345-348
Adenine Nucleotide Catabolism in the Erythrocytes of Uraemic Patients....Pages 349-352
Nucleotide Catabolism in Red Blood Cells of Rabbit....Pages 353-356
The Effect of Aspirin on Blood Cell Nucleotides in Vivo ....Pages 357-358
Aicariboside Inhibits Gluconeogenesis in Isolated Rat Hepatocytes....Pages 359-362
Z-Nucleotides Formation in Human and Rat Cells....Pages 363-366
Purine Metabolism in Regenerating Liver-Bearing Rats....Pages 367-370
Purine Nucleotide Synthesis in Rat Liver after Castration....Pages 371-374
Incorporation of Purine Ribonucleotides into Nucleic Acids of Rat Liver after Castration....Pages 375-378
The Effect of Pyrroline-5-Carboxylate on R5P and PRPP Generation in Mouse Liver in Vivo....Pages 379-381
Effects of Oral Ribose on Muscle Metabolism during Bicycle Ergometer in Patients with AMP-Deaminase-Deficiency....Pages 383-385
Back Matter....Pages 387-393
