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

by R. Angus Harkness (Editor), T.B. Elion (Editor), N. Zollner (Editor)

B Structural Biochemistry, Pathogenesis and Metabolism.- D. Measurement of Purine and Pyrimidines in Tissues and Biological Fluids.- Capillary Electrophoresis for the Analysis of Cellular Nucleotides.- An Improved Screening Method for Inherited Disorders of Purine and Pyrimidine Metabolism by HPLC.- A Single HPLC System for the Evaluation of Purine and Pyrimidine Metabolites in Body Fluids.- Simple Method for the Quantitative Analysis of Dihydropyrimidine and N-Carbamyl-?-Aminoacids in Urine.- Diagnostic Potential of Experimental and Clinical Trials.- Reference Values of Orotic Acid, Uracil and Pseudouridine in Urine.- Automated Quantitative Analysis for Orotidine and Uridine/Thymine in Urine by High-Performance Liquid Chromatography with Column Switching.- HPLC Assay of Uridine Monophosphate Synthase (UMPS) in Chorionic Villus Samples (CVS) and Erythrocytes (RBC).- A RP-HPLC Method for the Measurement of Guanine, Other Purine Bases and Nucleosides.- Some Aspects of Purine Nucleotide Metabolism in Human Lymphocytes. Before and after Infection with HIV-I Nucleotide Content.- Prenatal Diagnosis of Lesch-Nyhan Syndrome by Purine Analysis of Amniotic Fluid and Cordocentesis.- E. Structural Biochemistry.- Gene Therapy in Man and Adenosine Deaminase Deficiency, Ornithine Transcarbamylase Deficiency and Duchenne Muscular Dystrophy.- Regulation of the Human Adenosine Deaminase Gene by First Intron Sequences in a T-cell Enhancer.- Expression of the APRT Gene in an Adenovirus Vector System as a Model for Studying Gene Therapy.- Transcriptional Regulation of Ribonucleotide Reductase.- Mutational Basis of Adenine Phosphoribosyl-Transferase Deficiency.- Analysis of the Promoter Region of the CHO APRT Gene.- A Splice Mutation at the Adenine Phosphoribosyltransferase Locus Detected in a German Family.- Germline and Somatic Mutations Leading to Adenosine Phosphoribosyltransferase (APRT) Deficiency.- Long - Term Evolution of Type 1 Adenine Phosphoribosyltransferase (APRT) Deficiency.- A Strategy for the Creation of Mutations in Human HPRT-cDNA and the Expression of Recombinant Proteins in E. coli.- Molecular Analysis of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Japanese Patients.- Expression of Normal and Variant Human Hypoxanthine-Guanine Phosphoribosyltransferase in E. coli.- HPRT Gene Mutations in a Female Lesch-Nyhan Patient.- Molecular Analysis of Human HPRT Gene Deletions and Duplications.- Rat Hypoxanthine Phosphorbosyltranferase cDNA Cloning and Sequence Analysis.- Identification of Two Independent Japanese Mutant HPRT Genes Using the PCR Technique.- Identification of Distinct PRS1 Mutations in Two Patients with X-Linked Phosphoribosylpyrophosphate Synthetase Superactivity.- Human Phosphoribosylpyrophosphatase (PRS)2: an Independently Active, X Chromosome-Linked PRS Isoform.- Rescue of Lethal Purine Nucleoside Phosphorylase Mutation in the Mouse via a Second Locus Interaction.- Genetic Models of Purine Nucleoside Phosphorylase Deficiency in the Mouse..- A Genetic Defect in Muscle Phosphofructokinase Deficiency, a Typical Clinical Entity Presenting Myogenic Hyperuricemia.- 5?- an Overview of the Last Three Years.- Cytosolic Purine 5?-Nucleotidase from Chicken an Isozyme of the Liver Enzyme as Evidenced by Antibodies.- Amplification of T-cell Activity Induced by CD73 (Ecto 5?-Nucleotidase) Engagement.- Studies on the Structure and Biosynthesis of the Phosphatidyl-Inositol-Glycan Anchor and the Carbohydrate Side Chains of Human Placental Ecto 5?-Nucleotidase.- Diphosphonucleosides Are Indispensable Cofactors of AMP-Specific Cytoplasmic 5?-Nucleotidase Catalysed Reaction.- Adenosine Metabolising Enzymes in Bull and Human Spermatozoa.- Cytosolic 5?-Nucleotidase/Phosphotransferase of Human Colon Carcinoma.- Purine Nucleoside Allosteric Regulation of a Dissociating Enzyme..- Purine Nucleoside Phosphorylase of Bovine Liver Mitochondria.- Uridine and Purine Nucleoside Phos

416 pages, Paperback

First published December 31, 1991