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Pathway Description
AICA-Ribosiduria
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-30
AICA-ribosiduria is a metabolic disease caused by a defect in final steps of purine de novo biosynthesis. This defect is caused by a mutation in the ATIC which codes for bifunctional purine biosynthesis protein PURH. A deficiency in this enzyme results in accumulation of 5-aminoimidazole-4-carboxamide in urine. Symptoms include mental retardation, epilepsy, dysmorphic features, and congenital blindness.
References
AICA-Ribosiduria References
Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF: AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. doi: 10.1086/421475. Epub 2004 Apr 26.
Pubmed: 15114530
Purine Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.)Â (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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Pubmed: 16141072
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Pubmed: 15489334
Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP: A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89. doi: 10.1016/j.cell.2010.12.001.
Pubmed: 21183079
Mehus JG, Deloukas P, Lambeth DO: NME6: a new member of the nm23/nucleoside diphosphate kinase gene family located on human chromosome 3p21.3. Hum Genet. 1999 Jun;104(6):454-9. doi: 10.1007/s004390050987.
Pubmed: 10453732
Chadwick BP, Williamson J, Sheer D, Frischauf AM: cDNA cloning and chromosomal mapping of a mouse gene with homology to NTPases. Mamm Genome. 1998 Feb;9(2):162-4.
Pubmed: 9457681
Trombetta ES, Helenius A: Glycoprotein reglucosylation and nucleotide sugar utilization in the secretory pathway: identification of a nucleoside diphosphatase in the endoplasmic reticulum. EMBO J. 1999 Jun 15;18(12):3282-92. doi: 10.1093/emboj/18.12.3282.
Pubmed: 10369669
Recio JA, Zambrano N, de La Pena L, Powers C, Siwarski D, Huppi K, Notario V: cDNA isolation, expression, and chromosomal localization of the mouse pcph proto-oncogene. Mol Carcinog. 1999 Oct;26(2):130-6.
Pubmed: 10506756
Bigonnesse F, Levesque SA, Kukulski F, Lecka J, Robson SC, Fernandes MJ, Sevigny J: Cloning and characterization of mouse nucleoside triphosphate diphosphohydrolase-8. Biochemistry. 2004 May 11;43(18):5511-9. doi: 10.1021/bi0362222.
Pubmed: 15122917
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP: Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26.
Pubmed: 19468303
Brady WA, Kokoris MS, Fitzgibbon M, Black ME: Cloning, characterization, and modeling of mouse and human guanylate kinases. J Biol Chem. 1996 Jul 12;271(28):16734-40. doi: 10.1074/jbc.271.28.16734.
Pubmed: 8663313
Villen J, Beausoleil SA, Gerber SA, Gygi SP: Large-scale phosphorylation analysis of mouse liver. Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1488-93. doi: 10.1073/pnas.0609836104. Epub 2007 Jan 22.
Pubmed: 17242355
Petrakis TG, Ktistaki E, Wang L, Eriksson S, Talianidis I: Cloning and characterization of mouse deoxyguanosine kinase. Evidence for a cytoplasmic isoform. J Biol Chem. 1999 Aug 27;274(35):24726-30. doi: 10.1074/jbc.274.35.24726.
Pubmed: 10455141
This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000168
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