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Pathway Description
Triosephosphate Isomerase Deficiency
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Triosephosphate isomerase deficiency is a genetic disorder caused by a mutation in the TPI1 gene. The mutation of this gene causes the production of enzymes that are unstable or enzymes that have reduced activity. This means that cells have reduced energy supplies as glycolysis is compromised. This disorder causes anemia, movement problems and muscle weakness. As a result of the lack of red blood cells to carry oxygen through the body, patients may experience fatigue and shortness of breath. Movement problems appear in early infancy, typically before the age of 2 in patients with this disorder. Treatment includes blood transfusions.
References
Triosephosphate Isomerase Deficiency References
Orosz F, Olah J, Ovadi J: Triosephosphate isomerase deficiency: facts and doubts. IUBMB Life. 2006 Dec;58(12):703-15. doi: 10.1080/15216540601115960.
Pubmed: 17424909
Gluconeogenesis References
Haber BA, Chin S, Chuang E, Buikhuisen W, Naji A, Taub R: High levels of glucose-6-phosphatase gene and protein expression reflect an adaptive response in proliferating liver and diabetes. J Clin Invest. 1995 Feb;95(2):832-41. doi: 10.1172/JCI117733.
Pubmed: 7860767
Lange AJ, Argaud D, el-Maghrabi MR, Pan W, Maitra SR, Pilkis SJ: Isolation of a cDNA for the catalytic subunit of rat liver glucose-6-phosphatase: regulation of gene expression in FAO hepatoma cells by insulin, dexamethasone and cAMP. Biochem Biophys Res Commun. 1994 May 30;201(1):302-9. doi: 10.1006/bbrc.1994.1702.
Pubmed: 8198588
Shingu R, Nakajima H, Horikawa Y, Hamaguchi T, Yamasaki T, Miyagawa J, Namba M, Hanafusa T, Matsuzawa Y: Expression and distribution of glucose-6-phosphatase catalytic subunit messenger RNA and its changes in the diabetic state. Res Commun Mol Pathol Pharmacol. 1996 Jul;93(1):13-24.
Pubmed: 8865366
Rivera AA, Elton TS, Dey NB, Bounelis P, Marchase RB: Isolation and expression of a rat liver cDNA encoding phosphoglucomutase. Gene. 1993 Nov 15;133(2):261-6. doi: 10.1016/0378-1119(93)90649-n.
Pubmed: 8224913
Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Pubmed: 22673903
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. doi: 10.1101/gr.2596504.
Pubmed: 15489334
Maurya DK, Sundaram CS, Bhargava P: Proteome profile of the mature rat olfactory bulb. Proteomics. 2009 May;9(9):2593-9. doi: 10.1002/pmic.200800664.
Pubmed: 19343716
Thelen AP, Wilson JE: Complete amino acid sequence of the type II isozyme of rat hexokinase, deduced from the cloned cDNA: comparison with a hexokinase from novikoff ascites tumor. Arch Biochem Biophys. 1991 May 1;286(2):645-51. doi: 10.1016/0003-9861(91)90094-y.
Pubmed: 1897984
Ichihara J, Shinohara Y, Kogure K, Terada H: Nucleotide sequence of the 5'-flanking region of the rat type II hexokinase gene. Biochim Biophys Acta. 1995 Feb 21;1260(3):365-8. doi: 10.1016/0167-4781(94)00226-s.
Pubmed: 7873617
Mathupala SP, Rempel A, Pedersen PL: Glucose catabolism in cancer cells. Isolation, sequence, and activity of the promoter for type II hexokinase. J Biol Chem. 1995 Jul 14;270(28):16918-25. doi: 10.1074/jbc.270.28.16918.
Pubmed: 7622509
el-Maghrabi MR, Pilkis J, Marker AJ, Colosia AD, D'Angelo G, Fraser BA, Pilkis SJ: cDNA sequence of rat liver fructose-1,6-bisphosphatase and evidence for down-regulation of its mRNA by insulin. Proc Natl Acad Sci U S A. 1988 Nov;85(22):8430-4. doi: 10.1073/pnas.85.22.8430.
Pubmed: 2847161
el-Maghrabi MR, Lange AJ, Kummel L, Pilkis SJ: The rat fructose-1,6-bisphosphatase gene. Structure and regulation of expression. J Biol Chem. 1991 Feb 5;266(4):2115-20.
Pubmed: 1846613
Bertolotti R, Armbruster-Hilbert L, Okayama H: Liver fructose-1,6-bisphosphatase cDNA: trans-complementation of fission yeast and characterization of two human transcripts. Differentiation. 1995 Jul;59(1):51-60. doi: 10.1046/j.1432-0436.1995.5910051.x.
Pubmed: 7589895
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 SMP0000563
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