Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase.
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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndromeMutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblastsGenotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan diseaseThe isolation and characterization of Saccharomyces cerevisiae mutants that constitutively express purine biosynthetic genes.Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndromeA possible role for 5-phosphoribosyl 1-pyrophosphate in the stimulation of uterine purine nucleotide synthesis in response to oestradiol-17Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.Proline metabolism in N2-fixing root nodules: energy transfer and regulation of purine synthesis.Gout and its relation to lipid metabolism. I. Serum uric acid, lipid, and lipoprotein levels in gout.Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.Human purine metabolism: some recent advances and relationships with immunodeficiencyHypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblastsEvidence for X-linkage of human phosphoribosylpyrophosphate synthetase.Nicotinamide phosphoribosyltransferase/visfatin does not catalyze nicotinamide mononucleotide formation in blood plasmaInosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome.Variations in purine metabolism of cultured skin fibroblasts from patients with gout.Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines.Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.Characterization of a feedback-resistant phosphoribosylpyrophosphate synthetase from cultured, mutagenized hepatoma cells that overproduce purines.Purine metabolism in normal and thioguanine-resistant neuroblastoma.Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathwaysPatterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproductionEffects of allopurinol and oxipurinol on purine synthesis in cultured human cellsHyperuricaemia: some biochemical aspects.Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.Purine oversecretion in cultured murine lymphoma cells deficient in adenylosuccinate synthetase: genetic model for inherited hyperuricemia and goutProtein variations associated with Lesch-Nyhan syndrome.Consequences of impaired purine recycling in dopaminergic neurons.Regulation of hypoxanthine transport in Neurospora crassa.Pathophysiology of hyperuricemia in primary gout.Isolation of a Chinese hamster cell mutant with low intracellular phosphoribosylpyrophosphate concentration.Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functionsPurine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency).Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines.Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase.Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.Structural reverse genetics study of the PI5P4Kβ-nucleotide complexes reveals the presence of the GTP bioenergetic system in mammalian cells
P2860
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P2860
Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase.
description
1968 nî lūn-bûn
@nan
1968年の論文
@ja
1968年学术文章
@wuu
1968年学术文章
@zh
1968年学术文章
@zh-cn
1968年学术文章
@zh-hans
1968年学术文章
@zh-my
1968年学术文章
@zh-sg
1968年學術文章
@yue
1968年學術文章
@zh-hant
name
Biochemical bases of accelerat ...... ine phosphoribosyltransferase.
@en
Biochemical bases of accelerat ...... ine phosphoribosyltransferase.
@nl
type
label
Biochemical bases of accelerat ...... ine phosphoribosyltransferase.
@en
Biochemical bases of accelerat ...... ine phosphoribosyltransferase.
@nl
prefLabel
Biochemical bases of accelerat ...... ine phosphoribosyltransferase.
@en
Biochemical bases of accelerat ...... ine phosphoribosyltransferase.
@nl
P2093
P1476
Biochemical bases of accelerat ...... nine phosphoribosyltransferase
@en
P2093
Caldwell IC
Henderson JF
Rosenbloom FM
Seegmiller JE
P304
P407
P577
1968-03-01T00:00:00Z