Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

A familial disorder of uric acid metabolism and central nervous system function

1964 • 1,448 citations

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1967 • 1,210 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1969 • 452 citations

ENZYMATIC SYNTHESIS AND PROPERTIES OF 5-PHOSPHORIBOSYLPYROPHOSPHATE

1955 • 316 citations

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

1968 • 251 citations

Phosphoribosylpyrophosphate in Man: Biochemical and Clinical Significance

1971 • 219 citations

Autogenous Regulation of Gene Expression

1974 • 201 citations

The spontaneous azaguanine-resistant mutants of diploid human fibroblasts

1972 • 161 citations

Human Glutamine Phosphoribosylpyrophosphate Amidotransferase

1973 • 133 citations

Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

1971 • 126 citations

Lesch-Nyhan Syndrome: Altered Kinetic Properties of Mutant Enzyme

1971 • 118 citations

Mitochondrial Changes in Preoptic Neurones after Capsaicin Desensitization of the Hypothalamic Thermodetectors in Rats

1971 • 114 citations

The Spectrum of Hypoxanthine-guanine Phosphoribosyltransferase Deficiency

1973 • 107 citations

Human Phosphoribosylpyrophosphate Synthetase: Increased Enzyme Specific Activity in a Family with Gout and Excessive Purine Synthesis

1973 • 86 citations

Repression and Derepression of Purine Biosynthesis in Mammalian Hepatoma Cells in Culture

1972 • 83 citations

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1970 • 80 citations

Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.

1975 • 76 citations

Characterization of a Feedback-Resistant Phosphoribosylpyrophosphate Synthetase from Cultured, Mutagenized Hepatoma Cells That Overproduce Purines

1973 • 70 citations

The effect of cyclic nucleotides on purine biosynthesis and the induction of PRPP synthetase during lymphocyte activation

1974 • 67 citations

Gout and Cerebral Palsy in a Three-year-old Boy

1960 • 49 citations

Phosphoribosylpyrophosphate Overproduction, a New Metabolic Abnormality in the Lesch Nyhan Syndrome

1975 • 49 citations

ACCELERATED TURNOVER OF PHOSPHORIBOSYLPYROPHOSPHATE, A PURINE NUCLEOTIDE PRECURSOR, IN CERTAIN GOUTY SUBJECTS*

1962 • 45 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis

1973 • 41 citations

Azaguanine-resistance as a manifestation of a new form of metabolic overproduction of uric acid

1972 • 39 citations

Evolutionary significance of autogenous regulation

1974 • 38 citations

Purine Metabolism in Normal and Thioguanine-Resistant Neuroblastoma

1973 • 32 citations

Increased formation of 5-phosphoriboxyl-1-pyrophosphate in red blood cells of some gouty patients.

1968 • 26 citations

Accelerated purine biosynthesis de novo in skin fibroblasts deficient in hypoxanthine-guanine phosphoribosyltransferase activity

1968 • 26 citations

Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine‐guanine phosphoribosyltransferase gene

1976 • 25 citations

Fine structure analysis of a eukaryotic multifunctional gene

1974 • 19 citations

Partial Reversion in Yeast: Genetic Evidence for a New Type of Bifunctional Protein

1970 • 18 citations

A complex genetic locus controlling purine nucleotide biosynthesis in yeast

1973 • 12 citations

New Prospects for Understanding and Control of Genetic Diseases

1972 • 6 citations