嘌呤核苷磷酸化酶
来自医学百科
模板:Protein 模板:PBB/4860 嘌呤核苷磷酸化酶英文名:Purine nucleoside phosphorylase,简写为PNPase)是参与嘌呤代谢的一种酶。嘌呤核苷磷酸化酶可以代谢腺苷到腺嘌呤,肌苷到次黄嘌呤,鸟苷到鸟嘌呤,并在这些反应中产生核糖-5-磷酸。
需要注意的是,PNPase这一简称还被用于另一个不相关的酶,多核苷酸磷酸化酶(Polynucleotide Phosphorylase)。
相关疾病
嘌呤核苷磷酸化酶缺陷型病患会有免疫缺陷,而只有免疫系统中的T细胞和B细胞不受此缺陷影响。
参见
深入阅读
- Markert ML. Purine nucleoside phosphorylase deficiency.. Immunodeficiency reviews. 1991, 3 (1): 45–81. PMID 1931007.
- Borgers M, Verhaegen H, De Brabander M, et al.. Purine nucleoside phosphorylase in chronic lymphocytic leukemia (CLL).. Blood. 1978, 52 (5): 886–95. PMID 100152.
- Aust MR, Andrews LG, Barrett MJ, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1682776/ Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.]. Am. J. Hum. Genet.. 1992, 51 (4): 763–72. PMID 1384322. PMC 1682776.
- Andrews LG, Markert ML. Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe immunodeficiency.. J. Biol. Chem.. 1992, 267 (11): 7834–8. PMID 1560016.
- Jonsson JJ, Williams SR, McIvor RS. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC328804/ Sequence and functional characterization of the human purine nucleoside phosphorylase promoter.]. Nucleic Acids Res.. 1991, 19 (18): 5015–20. Error: Bad DOI specified模板:Namespace detect showall. PMID 1923769. PMC 328804.
- Ealick SE, Rule SA, Carter DC, et al.. Three-dimensional structure of human erythrocytic purine nucleoside phosphorylase at 3.2 A resolution.. J. Biol. Chem.. 1990, 265 (3): 1812–20. PMID 2104852.
- Williams SR, Gekeler V, McIvor RS, Martin DW. A human purine nucleoside phosphorylase deficiency caused by a single base change.. J. Biol. Chem.. 1987, 262 (5): 2332–8. PMID 3029074.
- Williams SR, Goddard JM, Martin DW. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC320030/ Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.]. Nucleic Acids Res.. 1984, 12 (14): 5779–87. Error: Bad DOI specified模板:Namespace detect showall. PMID 6087295. PMC 320030.
- Pannicke U, Tuchschmid P, Friedrich W, et al.. Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.. Hum. Genet.. 1997, 98 (6): 706–9. Error: Bad DOI specified模板:Namespace detect showall. PMID 8931706.
- Markert ML, Finkel BD, McLaughlin TM, et al.. Mutations in purine nucleoside phosphorylase deficiency.. Hum. Mutat.. 1997, 9 (2): 118–21. Error: Bad DOI specified模板:Namespace detect showall. PMID 9067751.
- Erion MD, Takabayashi K, Smith HB, et al.. Purine nucleoside phosphorylase. 1. Structure-function studies.. Biochemistry. 1997, 36 (39): 11725–34. Error: Bad DOI specified模板:Namespace detect showall. PMID 9305962.
- Erion MD, Stoeckler JD, Guida WC, et al.. Purine nucleoside phosphorylase. 2. Catalytic mechanism.. Biochemistry. 1997, 36 (39): 11735–48. Error: Bad DOI specified模板:Namespace detect showall. PMID 9305963.
- Stoeckler JD, Poirot AF, Smith RM, et al.. Purine nucleoside phosphorylase. 3. Reversal of purine base specificity by site-directed mutagenesis.. Biochemistry. 1997, 36 (39): 11749–56. Error: Bad DOI specified模板:Namespace detect showall. PMID 9305964.
- Sasaki Y, Iseki M, Yamaguchi S, et al.. Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient.. Hum. Genet.. 1998, 103 (1): 81–5. Error: Bad DOI specified模板:Namespace detect showall. PMID 9737781.
- Sheppard TL, Ordoukhanian P, Joyce GF. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC16625/ A DNA enzyme with N-glycosylase activity.]. Proc. Natl. Acad. Sci. U.S.A.. 2000, 97 (14): 7802–7. Error: Bad DOI specified模板:Namespace detect showall. PMID 10884411. PMC 16625.
- Dalal I, Grunebaum E, Cohen A, Roifman CM. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient.. Clin. Genet.. 2001, 59 (6): 430–7. Error: Bad DOI specified模板:Namespace detect showall. PMID 11453975.
- Ivings L, Pennington SR, Jenkins R, et al.. [http//www.ncbi.nlm.nih.gov/pmc/articles/PMC1222513/ Identification of Ca2+-dependent binding partners for the neuronal calcium sensor protein neurocalcin delta: interaction with actin, clathrin and tubulin.]. Biochem. J.. 2002, 363 (Pt 3): 599–608. Error: Bad DOI specified模板:Namespace detect showall. PMID 11964161. PMC 1222513.
- Falkenberg M, Gaspari M, Rantanen A, et al.. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.. Nat. Genet.. 2002, 31 (3): 289–94. Error: Bad DOI specified模板:Namespace detect showall. PMID 12068295.
- Stoychev G, Kierdaszuk B, Shugar D. Xanthosine and xanthine. Substrate properties with purine nucleoside phosphorylases, and relevance to other enzyme systems.. Eur. J. Biochem.. 2002, 269 (16): 4048–57. Error: Bad DOI specified模板:Namespace detect showall. PMID 12180982.
外部链接
模板:Glycosyltransferases 模板:Nucleotide metabolism