Results 191 to 200 of about 13,871 (203)
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Experimental Cell Research, 1977
Summary Transport of purine bases and nucleosides by a variety of mammalian cell lines is generally accomplished by facilitated diffusion, a non-concentrative, saturable process. However, previous investigators have been unable to detect a saturable component for the transport of hypoxanthine by human fibroblasts deficient in hypoxanthine-guanine ...
Rody P. Cox, M.J. Holland, Ellen Murphy
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Summary Transport of purine bases and nucleosides by a variety of mammalian cell lines is generally accomplished by facilitated diffusion, a non-concentrative, saturable process. However, previous investigators have been unable to detect a saturable component for the transport of hypoxanthine by human fibroblasts deficient in hypoxanthine-guanine ...
Rody P. Cox, M.J. Holland, Ellen Murphy
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Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies
1995Complete deficiency of HPRT causes the Lesch-Nyhan syndrome (LNS) which is characterized by hyperuricemia, mental retardation, choreoathetosis, and compulsive self-mutilation. Partial deficiency of HPRT leads to a severe form of gout and nephrolithiasis. In contrast to the Lesch-Nyhan syndrome it has been proposed to designate this as Kelley-Seegmiller
Wolf Gutensohn +3 more
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1978
Publisher Summary This chapter describes the methodology of hypoxanthine phosphoribosyltransferase and guanine phosphoribosyltransferase enzyme purification from enteric bacteria. Phosphoribosyltransferases (PRTs) for hypoxanthine and guanine are separate activities representing the gene products of only distantly linked genes on the chromosome of ...
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Publisher Summary This chapter describes the methodology of hypoxanthine phosphoribosyltransferase and guanine phosphoribosyltransferase enzyme purification from enteric bacteria. Phosphoribosyltransferases (PRTs) for hypoxanthine and guanine are separate activities representing the gene products of only distantly linked genes on the chromosome of ...
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Genetic Analysis of Human Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Enzyme, 1987Hypoxanthine-guanine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) functions in the purine-metabolic salvage pathway. Two clinical syndromes are associated with a deficiency in HPRT enzyme activity. Virtually complete deficiency leads to the Lesch-Nyhan syndrome, whereas partial deficiency results in ...
Larry J. Silverman +2 more
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1974
Partial deficiency of HGPRT, a salvage enzyme of purine metabolism, has been demonstrated to be the primary abnormality causing purine overproduction in a small proportion of patients with gout (1–4). The quantitative deviation in the activity of this enzyme has been shown by Kelley et al.
A. de Vries, Oded Sperling, P. Boer
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Partial deficiency of HGPRT, a salvage enzyme of purine metabolism, has been demonstrated to be the primary abnormality causing purine overproduction in a small proportion of patients with gout (1–4). The quantitative deviation in the activity of this enzyme has been shown by Kelley et al.
A. de Vries, Oded Sperling, P. Boer
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Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency
Pediatric Neurology, 1986Erythrocyte assays for hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity performed on two male half-siblings with hyperuricemia, produced results consistent with classic Lesch-Nyhan syndrome. Due to the absence of neurologic abnormalities, cognitive deficits, or self-mutilation, HGPRT activity was measured by intact fibroblast assay which
Joseph H. Hersh +5 more
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Human and Mouse Hypoxanthine-Guanine Phosphoribosyltransferase: Dimers and Tetramers
Science, 1979Human and mouse hypoxanthine-guanine phosphoribosyltransferase subunits combine to form an active heteropolymer. Dimers form the basic subunit structure of the enzymes, yet the dimers can readily associate to form tetramers. The equilibrium between dimers and tetramers is significantly influenced by the ionic strength of the enzyme solvent.
Gerald G. Johnson +2 more
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Role of Human Hypoxanthine Guanine Phosphoribosyltransferase in Nucleotide Interconversion
1980It is well established that human Hypoxanthine-Guanine Phospho-ribosyltransferase (HGPRT, EC 2.4.2.8) catalyzes the reactions: Open image in new window Open image in new ...
GIACOMELLO, Alessandro +1 more
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Canadian Journal of Biochemistry, 1969
Isotope exchange between hypoxanthine and both inosinate and guanylate, and between guanine and the same two ribonucleotides, support the view that hypoxanthine and guanine bind to the same site on hypoxanthine-guanine phosphoribosyltransferase.
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Isotope exchange between hypoxanthine and both inosinate and guanylate, and between guanine and the same two ribonucleotides, support the view that hypoxanthine and guanine bind to the same site on hypoxanthine-guanine phosphoribosyltransferase.
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Biochemical and Biophysical Research Communications, 1967
J. Frank Henderson +3 more
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J. Frank Henderson +3 more
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