嘌呤核苷磷酸化酶

嘌呤核苷磷酸化酶英語：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-1-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）。 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。 磷酸化酶 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.  引文格式1维护：显式使用等标签 (link) Aust MR, Andrews LG, Barrett MJ; et al. Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.. Am. J. Hum. Genet. 1992, 51 (4): 763–72. PMC 1682776 . PMID 1384322.  引文格式1维护：显式使用等标签 (link) 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. Sequence and functional characterization of the human purine nucleoside phosphorylase promoter.. Nucleic Acids Res. 1991, 19 (18): 5015–20. PMC 328804 . PMID 1923769. doi:10.1093/nar/19.18.5015.  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.  引文格式1维护：显式使用等标签 (link) 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. Human purine nucleoside phosphorylase cDNA sequence and genomic clone characterization.. Nucleic Acids Res. 1984, 12 (14): 5779–87. PMC 320030 . PMID 6087295. doi:10.1093/nar/12.14.5779.  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. PMID 8931706. doi:10.1007/s004390050290.  引文格式1维护：显式使用等标签 (link) Markert ML, Finkel BD, McLaughlin TM; et al. Mutations in purine nucleoside phosphorylase deficiency.. Hum. Mutat. 1997, 9 (2): 118–21. PMID 9067751. doi:10.1002/(SICI)1098-1004(1997)9:2<118::AID-HUMU3>3.0.CO;2-5.  引文格式1维护：显式使用等标签 (link) Erion MD, Takabayashi K, Smith HB; et al. Purine nucleoside phosphorylase. 1. Structure-function studies.. Biochemistry. 1997, 36 (39): 11725–34. PMID 9305962. doi:10.1021/bi961969w.  引文格式1维护：显式使用等标签 (link) Erion MD, Stoeckler JD, Guida WC; et al. Purine nucleoside phosphorylase. 2. Catalytic mechanism.. Biochemistry. 1997, 36 (39): 11735–48. PMID 9305963. doi:10.1021/bi961970v.  引文格式1维护：显式使用等标签 (link) 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. PMID 9305964. doi:10.1021/bi961971n.  引文格式1维护：显式使用等标签 (link) 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. PMID 9737781. doi:10.1007/s004390050787.  引文格式1维护：显式使用等标签 (link) Sheppard TL, Ordoukhanian P, Joyce GF. A DNA enzyme with N-glycosylase activity.. Proc. Natl. Acad. Sci. U.S.A. 2000, 97 (14): 7802–7. PMC 16625 . PMID 10884411. doi:10.1073/pnas.97.14.7802.  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. PMID 11453975. doi:10.1034/j.1399-0004.2001.590608.x.  Ivings L, Pennington SR, Jenkins R; et al. 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. PMC 1222513 . PMID 11964161. doi:10.1042/0264-6021:3630599.  引文格式1维护：显式使用等标签 (link) 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. PMID 12068295. doi:10.1038/ng909.  引文格式1维护：显式使用等标签 (link) 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. PMID 12180982. doi:10.1046/j.1432-1033.2002.03097.x.  （英文）人源PNP结构（页面存档备份，存于互联网档案馆） （英文）细菌PNP结构（页面存档备份，存于互联网档案馆） （英文）醫學主題詞表（MeSH）：Purine-Nucleoside+Phosphorylase