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1
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4147-50. doi: 10.1073/pnas.72.10.4147.
2
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4142-6. doi: 10.1073/pnas.72.10.4142.
3
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
4
Hypoxanthine phosphoribosyltransferase: two-dimensional gels from normal and Lesch-Nyhan hemolyzates.
Science. 1977 Jun 3;196(4294):1119-20. doi: 10.1126/science.870972.
5
Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells.
Pediatr Res. 1980 Jun;14(6):825-9. doi: 10.1203/00006450-198006000-00010.
6
Hypoxanthine-guanine phosphoribosyltransferase activity in individual erythrocytes: autoradiographic studies in heterozygotes.
Ciba Found Symp. 1977(48):97-104. doi: 10.1002/9780470720301.ch7.
7
Study of immunoreactive material in patients with deficient HPRT activity.
Adv Exp Med Biol. 1977;76A:361-9. doi: 10.1007/978-1-4613-4223-6_46.
8
Genetic heterogeneity at the locus for hypoxanthine-guanine phosphoribosyltransferase.
Ciba Found Symp. 1977(48):65-81. doi: 10.1002/9780470720301.ch5.
9
Simple screening methods for hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase deficiencies using dried blood spots on filter paper.
Ann Clin Biochem. 1986 Sep;23 ( Pt 5):529-32. doi: 10.1177/000456328602300507.
10
Hypoxanthine-guanine phosphoribosyltransferase: a simple spectrophotometric assay.
Clin Chim Acta. 1977 Oct 1;80(1):203-7. doi: 10.1016/0009-8981(77)90280-7.
引用本文的文献
1
Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.
Biochem Genet. 1980 Feb;18(1-2):1-19. doi: 10.1007/BF00504356.
2
HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
Hum Genet. 1981;57(2):185-8. doi: 10.1007/BF00282019.
3
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.
Am J Hum Genet. 1982 Jan;34(1):73-83.
4
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.
J Clin Invest. 1982 Mar;69(3):706-15. doi: 10.1172/jci110499.
5
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.
Proc Natl Acad Sci U S A. 1982 Mar;79(6):1950-4. doi: 10.1073/pnas.79.6.1950.
6
Protein variations associated with Lesch-Nyhan syndrome.
Proc Natl Acad Sci U S A. 1981 Oct;78(10):6471-5. doi: 10.1073/pnas.78.10.6471.
7
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.
J Clin Invest. 1983 May;71(5):1331-5. doi: 10.1172/jci110884.
8
Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids.
Hum Genet. 1983;63(2):121-5. doi: 10.1007/BF00291530.
9
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia.
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7737-41. doi: 10.1073/pnas.78.12.7737.
10
Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective media.
J Inherit Metab Dis. 1985;8(4):198-203. doi: 10.1007/BF01805435.
本文引用的文献
1
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.
2
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.
Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.
3
Protein purification by affinity chromatography. Derivatizations of agarose and polyacrylamide beads.
J Biol Chem. 1970 Jun;245(12):3059-65.
4
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure.
J Biol Chem. 1971 Dec 10;246(23):7398-404.
5
Solid state lactoperoxidase: a highly stable enzyme for simple, gentle iodination of proteins.
Biochem Biophys Res Commun. 1972 Jul 25;48(2):464-71. doi: 10.1016/s0006-291x(72)80074-3.
6
Subunit molecular weight of human hypoxanthine-guanine phosphoribosyltransferase.
J Biol Chem. 1974 Jul 10;249(13):4038-40.
7
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
8
Selective degradation of abnormal proteins in mammalian tissue culture cells.
Proc Natl Acad Sci U S A. 1974 Dec;71(12):4732-6. doi: 10.1073/pnas.71.12.4732.
9
Chinese hamster hypoxanthine-guanine phosphoribosyltransferase. Purification, structural, and catalytic properties.
J Biol Chem. 1974 Jul 10;249(13):4030-7.
10
Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease.
Proc Natl Acad Sci U S A. 1971 Jul;68(7):1461-4. doi: 10.1073/pnas.68.7.1461.
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