Structural biochemistry, pathogenesis, and metabolism

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 HPLC: 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 Virus: Nucleotide Content.- Prenatal Diagnosis of Lesch-Nyhan Syndrome by Purine Analysis of Amniotic Fluid and Cordocentesis.- E. Structural Biochemistry.- Gene Therapy in Man and Mice: 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?-Nucleotidase: an Overview of the Last Three Years.- Cytosolic Purine 5?-Nucleotidase from Chicken Heart: 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 Phosphorylase: Allosteric Regulation of a Dissociating Enzyme..- Purine Nucleoside Phosphorylase of Bovine Liver Mitochondria.- Uridine and Purine Nucleoside Phosphorylase Activity in Human and Rat Heart.- A Comparative Study of the Small Forms of Adenosine Deaminase from Various Organisms.- Adenosine Deaminase in the Diagnosis of Pleural Effusions.- Molecular Forms of Human Kidney AMP Deaminase.- Molecular Analysis of Acquired Myoadenylate Deaminase Deficiency in Polymyositis (Idiopathic Inflammatory Myopathy).- Molecular Genetic Analysis of Chromosome 9p in Methylthioadenosine Phosphorylase Deficient Glioma Cell Lines.- S-Adenosylhomocysteine Hydrolase Activity in Erythrocytes from HIV-Infected Patients.- Purification and Characterization of Recombinant Rat Phosphoribosylpyrophosphate Synthetase Subunit I and Subunit II.- Rapid Purification of a Bifunctional Protein Complex Possessing Phosphoribosylaminoimidazole Carboxylase (EC 4.1.1.21) and Phosphoribosylaminoimidazolesluccinocarboxamide Synthetase (EC 6.3.2.6) Activities.- Highest ADA Expressing Mouse Tissues also Exhibit Cell-Type Specific Coordinate Up-Regulation of Purine Degradative Enzymes.- Cytidine Deaminase: A Rapid Method of Purification and some Properties of the Enzyme from Human Placenta.- Expression and Substrate Specificities of Human Thymidine Kinase 1, Thymidine Kinase 2 and Deoxycytidine Kinase.- Pyrimidine 5?-Nucleotidase (S) of Human Erythrocytes: Enzymatic and Molecular Characterization.- F. Pathogenesis.- GTP Activates Two Enzymes of Pyrimidine Salvage from the Human Intestinal Parasite Giardia intestinalis.- Possible Metabolic Basis for the GTP Depletion in Red Cells of Patients with PRPP Synthetase Superactivity.- Guanine Metabolism in Primary Rat Neuronal Cells.- Urinary Pterins in Lesch-Nyhan Syndrome.- Basis for the Chondro-Osseous Dysplasia Associated with Adenosine Deaminase Deficiency: Selective Toxicity to Immature Chondrocytes.- Analysis of Forebrain Dopaminergic Pathways in HPRT-Deficient Mice.- Absence of dGTP Accumulation and Compensatory Loss of Deoxyguanosine Kinase in Purine Nucleoside Phosphorylase Deficient Mice.- Adenylosuccinase Activity and Succinylpurine Production in Fibroblasts of Adenylosuccinase-Deficient Children.- G. Metabolic Biochemistry.- Purine Nucleotide Cycle, Molecular Defects and Therapy.- IMP Dehydrogenase and GTP as Targets in Human Leukemia Treatment.- Guanine Ribonucleotide Depletion Inhibits T Cell Activation.- Raised IMP-Dehydrogenase Activity in the Erythrocytes of a Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.- Guanine Ribonucleotide Metabolism and the Regulation of Myelopoiesis.- Pyrimidine Pathways: News Concerning the Mechanism of Orotidine-5?-Monophosphate Decarboxylase.- Dihydropyrimidine Dehydrogenase Deficiency in a Hutterite Newborn.- Superactive UMP Hydrolase: Cause or Consequence of Haemolytic Anaemi?.- NAD Synthesis in Human Erythrocytes: Study of Adenyl Transferase Activities in Patients Bearing Purine Enzyme Disorders.- Pyridine Nucleotide Metabolism: Purine and Pyrimidine Interconnections.- NAD Synthesis in ADA Deficient Erythrocytes of the Opossum Didelphis virginiana.- Pyridine Nucleotide Metabolism: Purification and Properties of NMN Adenylyltransferase from Human Placenta.- NAD Synthesis in Human Erythrocytes: Determination of the Activities of some Enzymes.- Applications of PRPP Metabolism in human Erythrocytes.- A Syndrome of Megaloblastic Anemia, Immunodeficiency and Excessive Nucleotide Degradation.- Adenine Nucleotide Catabolism in the Erythrocytes of Uraemic Patients.- Nucleotide Catabolism in Red Blood Cells of Rabbit.- The Effect of Aspirin on Blood Cell Nucleotides in Vivo.- AICAriboside Inhibits Gluconeogenesis in Isolated Rat Hepatocytes.- Z-Nucleotides Formation in Human and Rat Cells.- Purine Metabolism in Regenerating Liver-Bearing Rats.- Purine Nucleotide Synthesis in Rat Liver after Castration.- Incorporation of Purine Ribonucleotides into Nucleic Acids of Rat Liver after Castration.- The Effect of Pyrolline-5-Carboxylate on R5P and PRPP Generation in Mouse Liver in Vivo.- Effects of Oral Ribose on Muscle Metabolism during Bicycle Ergometer in Patients with AMP Deaminase Deficiency.