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Pathway Description
Argininemia
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Argininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid, and uracil in urine. Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures.
References
Argininemia References
Prasad AN, Breen JC, Ampola MG, Rosman NP: Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review. J Child Neurol. 1997 Aug;12(5):301-9. doi: 10.1177/088307389701200502.
Pubmed: 9378897
Iyer RK, Yoo PK, Kern RM, Rozengurt N, Tsoa R, O'Brien WE, Yu H, Grody WW, Cederbaum SD: Mouse model for human arginase deficiency. Mol Cell Biol. 2002 Jul;22(13):4491-8.
Pubmed: 12052859
Urea Cycle References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (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: 15122758
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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
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Pubmed: 16141072
Tzimagiorgis G, Moschonas NK: Molecular cloning, structure and expression analysis of a full-length mouse brain glutamate dehydrogenase cDNA. Biochim Biophys Acta. 1991 Jun 13;1089(2):250-3. doi: 10.1016/0167-4781(91)90017-g.
Pubmed: 1711373
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
Obaru K, Nomiyama H, Shimada K, Nagashima F, Morino Y: Cloning and sequence analysis of mRNA for mouse aspartate aminotransferase isoenzymes. J Biol Chem. 1986 Dec 25;261(36):16976-83.
Pubmed: 3782150
Tsuzuki T, Obaru K, Setoyama C, Shimada K: Structural organization of the mouse mitochondrial aspartate aminotransferase gene. J Mol Biol. 1987 Nov 5;198(1):21-31. doi: 10.1016/0022-2836(87)90454-2.
Pubmed: 2828632
Bradbury MW, Berk PD: Mitochondrial aspartate aminotransferase: direction of a single protein with two distinct functions to two subcellular sites does not require alternative splicing of the mRNA. Biochem J. 2000 Feb 1;345 Pt 3:423-7.
Pubmed: 10642497
Veres G, Gibbs RA, Scherer SE, Caskey CT: The molecular basis of the sparse fur mouse mutation. Science. 1987 Jul 24;237(4813):415-7. doi: 10.1126/science.3603027.
Pubmed: 3603027
Scherer SE, Veres G, Caskey CT: The genetic structure of mouse ornithine transcarbamylase. Nucleic Acids Res. 1988 Feb 25;16(4):1593-601. doi: 10.1093/nar/16.4.1593.
Pubmed: 2831503
Veres G, Craigen WJ, Caskey CT: The 5' flanking region of the ornithine transcarbamylase gene contains DNA sequences regulating tissue-specific expression. J Biol Chem. 1986 Jun 15;261(17):7588-91.
Pubmed: 3011788
Pesce JT, Ramalingam TR, Mentink-Kane MM, Wilson MS, El Kasmi KC, Smith AM, Thompson RW, Cheever AW, Murray PJ, Wynn TA: Arginase-1-expressing macrophages suppress Th2 cytokine-driven inflammation and fibrosis. PLoS Pathog. 2009 Apr;5(4):e1000371. doi: 10.1371/journal.ppat.1000371. Epub 2009 Apr 10.
Pubmed: 19360123
Surh LC, Beaudet AL, O'Brien WE: Molecular characterization of the murine argininosuccinate synthetase locus. Gene. 1991 Mar 15;99(2):181-9. doi: 10.1016/0378-1119(91)90125-u.
Pubmed: 1708740
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 SMP0000357
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