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

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