Published in J Biol Chem on March 25, 1968
Proline metabolism in N2-fixing root nodules: energy transfer and regulation of purine synthesis. Proc Natl Acad Sci U S A (1988) 2.50
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis (2007) 1.48
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. Proc Natl Acad Sci U S A (1970) 1.42
The isolation and characterization of Saccharomyces cerevisiae mutants that constitutively express purine biosynthetic genes. Genetics (1997) 1.31
Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines. Proc Natl Acad Sci U S A (1974) 1.25
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts. J Clin Invest (1975) 1.17
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain (2013) 1.17
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants. Curr Rheumatol Rep (2012) 1.16
Consequences of impaired purine recycling in dopaminergic neurons. Neuroscience (2008) 1.14
Characterization of a feedback-resistant phosphoribosylpyrophosphate synthetase from cultured, mutagenized hepatoma cells that overproduce purines. Proc Natl Acad Sci U S A (1973) 1.13
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
Gout and its relation to lipid metabolism. I. Serum uric acid, lipid, and lipoprotein levels in gout. Ann Rheum Dis (1973) 1.03
Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis. Proc Natl Acad Sci U S A (1973) 1.03
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency. J Clin Invest (1970) 1.02
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction. J Clin Invest (1976) 1.00
Effects of allopurinol and oxipurinol on purine synthesis in cultured human cells. J Clin Invest (1970) 0.99
Nicotinamide phosphoribosyltransferase/visfatin does not catalyze nicotinamide mononucleotide formation in blood plasma. PLoS One (2011) 0.97
Regulation of hypoxanthine transport in Neurospora crassa. J Bacteriol (1976) 0.95
Protein variations associated with Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A (1981) 0.95
Variations in purine metabolism of cultured skin fibroblasts from patients with gout. J Clin Invest (1968) 0.92
De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency. J Clin Invest (1976) 0.91
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout. J Clin Invest (1975) 0.90
Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling. J Neurochem (2013) 0.88
Purine oversecretion in cultured murine lymphoma cells deficient in adenylosuccinate synthetase: genetic model for inherited hyperuricemia and gout. Proc Natl Acad Sci U S A (1982) 0.88
Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase. Proc Natl Acad Sci U S A (1978) 0.87
Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome. J Clin Invest (1972) 0.87
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage. J Clin Invest (1979) 0.87
Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase. Proc Natl Acad Sci U S A (1978) 0.86
Genetic studies on the role of the nucleoside transport function in nucleoside efflux, the inosine cycle, and purine biosynthesis. Mol Cell Biol (1983) 0.86
Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency). Proc Natl Acad Sci U S A (1969) 0.85
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways. Mol Genet Metab (2014) 0.84
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease. Mol Genet Metab (2014) 0.83
Purine metabolism in normal and thioguanine-resistant neuroblastoma. Proc Natl Acad Sci U S A (1973) 0.82
Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology. Ann Rheum Dis (1980) 0.82
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome. J Med Genet (1976) 0.80
Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines. J Clin Invest (1985) 0.77
Human purine metabolism: some recent advances and relationships with immunodeficiency. Ann Rheum Dis (1983) 0.77
Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis. J Inherit Metab Dis (2015) 0.76
A possible role for 5-phosphoribosyl 1-pyrophosphate in the stimulation of uterine purine nucleotide synthesis in response to oestradiol-17 . Biochem J (1972) 0.75
Proceedings of a symposium on crystal-related arthropathies. 22 October and 23 October, 1982, Bristol Polytechnic, Bristol. Ann Rheum Dis (1983) 0.75
Pathophysiology of hyperuricemia in primary gout. Trans Am Clin Climatol Assoc (1970) 0.75
Isolation of a Chinese hamster cell mutant with low intracellular phosphoribosylpyrophosphate concentration. Mol Cell Biol (1982) 0.75
Hyperuricaemia: some biochemical aspects. Proc R Soc Med (1969) 0.75
Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome. Ann Rheum Dis (1977) 0.75
Current concepts of hyperuricemia and gout. Calif Med (1969) 0.75
Structural reverse genetics study of the PI5P4Kβ-nucleotide complexes reveals the presence of the GTP bioenergetic system in mammalian cells. FEBS J (2016) 0.75
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A (1967) 3.29
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). Proc Natl Acad Sci U S A (1977) 2.90
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med (1969) 2.84
A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases. J Biol Chem (1983) 2.60
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
The role of adenosine and 2'-deoxyadenosine in mammalian cells. Annu Rev Biochem (1978) 2.49
Human adenosine deaminase. cDNA and complete primary amino acid sequence. J Biol Chem (1984) 2.33
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science (1967) 2.12
Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T cells. Proc Natl Acad Sci U S A (1978) 1.93
Some biophysical properties of virus present in tissue cultures infected with the nuclear polyhedrosis virus of Trichoplusia ni. J Gen Virol (1974) 1.89
Adenosine kinase initiates the major route of ribavirin activation in a cultured human cell line. Proc Natl Acad Sci U S A (1978) 1.79
Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. J Pediatr (1968) 1.76
Morphogenesis of nuclear polyhedrosis virus under conditions of prolonged passage in vitro. J Ultrastruct Res (1974) 1.75
Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell lines. Proc Natl Acad Sci U S A (1979) 1.72
Hyperuricemia and gout. Classification, complications and management. N Engl J Med (1979) 1.71
Suppression of metabolic accompaniments of phagocytosis by colchicine. Arthritis Rheum (1965) 1.70
4',6-Dichloroflavan (BW683C), a new anti-rhinovirus compound. Nature (1981) 1.69
Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism (1972) 1.67
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme. J Clin Invest (1982) 1.65
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest (1987) 1.59
Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun (1967) 1.58
An enzymatic spectrophotometric method for the determination of xanthine and hypoxanthine. Clin Chem (1967) 1.57
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme. Science (1971) 1.56
Serial passage of a nuclear polyhedrosis disease virus of the cabbage looper (Trichoplusia ni) in a continuous tissue culture cell line. Virology (1972) 1.55
A role for adenosine deaminase in human monocyte maturation. J Clin Invest (1976) 1.55
Human glutamine phosphoribosylpyrophosphate amidotransferase. Kinetic and regulatory properties. J Biol Chem (1973) 1.53
Human adenosine deaminase. Distribution and properties. J Biol Chem (1976) 1.53
Measurement of DNA in cultured human cells. Anal Biochem (1974) 1.48
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med (1981) 1.48
Evidence for intergenic complementation in hybrid cells derived from two human diploid strains each carrying an X-linked mutation. Proc Natl Acad Sci U S A (1969) 1.48
Specificity of adenosine deaminase inhibitors. Biochem Pharmacol (1977) 1.47
Ion-exchange chromatography of tissue nucleotides. J Chromatogr (1969) 1.46
Xanthine nephropathy in a patient with lymphosarcoma treated with allopurinol. N Engl J Med (1970) 1.46
Urinary xanthine stones--a rare complications of allopurinol therapy. N Engl J Med (1969) 1.45
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency. N Engl J Med (1968) 1.45
Molecular cloning of human adenosine deaminase gene sequences. J Biol Chem (1983) 1.44
Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity. J Biol Chem (1971) 1.43
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure. J Biol Chem (1971) 1.42
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. Proc Natl Acad Sci U S A (1970) 1.42
Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes. Science (1977) 1.40
Differential sensitivity of human leukemic T cell lines and B cell lines to growth inhibition by deoxyadenosine. J Immunol (1978) 1.40
Adenosine deaminase deficiency and severe combined immunodeficiency disease. Adv Enzymol Relat Areas Mol Biol (1980) 1.39
Retroviral vector-mediated gene transfer into human hematopoietic progenitor cells. Science (1985) 1.39
The integrated inpatient management model. A new approach to clinical practice. Ann Intern Med (1989) 1.39
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc Natl Acad Sci U S A (1983) 1.39
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest (1968) 1.38
Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties. J Biol Chem (1971) 1.38
New prospects for understanding and control of genetic diseases. Arch Intern Med (1972) 1.38
Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4-hydroxypyrazolo[3,4-d] pyrimidine). J Lab Clin Med (1965) 1.37
The acute attack of gouty arthritis. Arthritis Rheum (1965) 1.37
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J Clin Invest (1988) 1.36
The presence of a kinin in inflammatory synovial effusion from arthritides of varying etiologies. Arthritis Rheum (1967) 1.36
Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition. J Biol Chem (1972) 1.36
Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis. J Clin Invest (1976) 1.36
Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution. Mol Cell Biol (1985) 1.35
Human adenosine deaminase. Purification and subunit structure. J Biol Chem (1977) 1.35
Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects. JAMA (1967) 1.34
An enzymatic determination of ammonia in biological fluids. J Lab Clin Med (1965) 1.34
Regulation of de novo purine biosynthesis in human lymphoblasts. Coordinate control of proximal (rate-determining) steps and the inosinic acid branch point. J Biol Chem (1976) 1.34
Biochemical diagnosis of an X-linked disease in utero. Lancet (1968) 1.34
Chondrocyte-derived apoptotic bodies and calcification of articular cartilage. Proc Natl Acad Sci U S A (1998) 1.33
Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. J Biol Chem (1982) 1.33
Rate-limiting steps in the interconversion of purine ribonucleotides in Ehrlich ascites tumor cells in vitro. Cancer Res (1971) 1.33
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme. J Biol Chem (1981) 1.32
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. Science (1970) 1.31
Altered regulation of Epstein-Barr virus induced lymphoblast proliferation in rheumatoid arthritis lymphoid cells. Arthritis Rheum (1980) 1.31
Adenosine metabolism in phytohemagglutinin-stimulated human lymphocytes. J Clin Invest (1976) 1.29
Consequences of inhibition of guanine nucleotide synthesis by mycophenolic acid and virazole. Cancer Res (1977) 1.28
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem (1968) 1.28
Phosphoribosylpyrophosphate in man: biochemical and clinical significance. Ann Intern Med (1971) 1.28
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. J Clin Invest (1986) 1.28
Cystine: compartmentalization within lysosomes in cystinotic leukocytes. Science (1969) 1.27
Alternative pathways of deoxyadenosine and adenosine metabolism. J Biol Chem (1973) 1.27
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res (1989) 1.25
Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines. Proc Natl Acad Sci U S A (1974) 1.25
Stimulation of human purine synthesis de novo by fructose infusion. Metabolism (1975) 1.25
Molecular form of adenosine deaminase in severe combined immunodeficiency. Biochem Biophys Res Commun (1974) 1.24
Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure. J Biol Chem (1978) 1.24
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24