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Pathway Description
2-Ketoglutarate Dehydrogenase Complex Deficiency
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
2-Ketoglutarate dehydrogenase complex deficiency, also known as alpha-ketoglutarate dehydrogenase deficiency or oxoglutaric aciduria, is an autosomal recessive disorder of the Krebs cycle caused by a defective oxoglutarate dehydrogenase complex (OGDC). OGDC catalyzes the conversion of 2-ketoglutarate into succinyl-CoA. This disorder is characterized by a large accumulation of 2-ketoglutarate in the urine. Symptoms of the disorder include opisthotonus, ataxia, developmental delay, and seizures.
References
2-Ketoglutarate Dehydrogenase Complex Deficiency References
Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr. 1992 Aug;121(2):255-8.
Pubmed: 1640293
Kiss G, Konrad C, Doczi J, Starkov AA, Kawamata H, Manfredi G, Zhang SF, Gibson GE, Beal MF, Adam-Vizi V, Chinopoulos C: The negative impact of alpha-ketoglutarate dehydrogenase complex deficiency on matrix substrate-level phosphorylation. FASEB J. 2013 Jun;27(6):2392-406. doi: 10.1096/fj.12-220202. Epub 2013 Mar 8.
Pubmed: 23475850
Citric Acid Cycle References
Matuda S, Nakano K, Ohta S, Saheki T, Kawanishi Y, Miyata T: The alpha-ketoacid dehydrogenase complexes. Sequence similarity of rat pyruvate dehydrogenase with Escherichia coli and Azotobacter vinelandii alpha-ketoglutarate dehydrogenase. Biochim Biophys Acta. 1991 May 2;1089(1):1-7. doi: 10.1016/0167-4781(91)90076-x.
Pubmed: 2025639
Cullingford TE, Clark JB, Phillips IR: The pyruvate dehydrogenase complex: cloning of the rat somatic E1 alpha subunit and its coordinate expression with the mRNAs for the E1 beta, E2, and E3 catalytic subunits in developing rat brain. J Neurochem. 1994 May;62(5):1682-90. doi: 10.1046/j.1471-4159.1994.62051682.x.
Pubmed: 8158120
Rardin MJ, Wiley SE, Naviaux RK, Murphy AN, Dixon JE: Monitoring phosphorylation of the pyruvate dehydrogenase complex. Anal Biochem. 2009 Jun 15;389(2):157-64. doi: 10.1016/j.ab.2009.03.040. Epub 2009 Mar 31.
Pubmed: 19341700
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Pubmed: 15489334
Matuda S, Nakano K, Ohta S, Shimura M, Yamanaka T, Nakagawa S, Titani K, Miyata T: Molecular cloning of dihydrolipoamide acetyltransferase of the rat pyruvate dehydrogenase complex: sequence comparison and evolutionary relationship to other dihydrolipoamide acyltransferases. Biochim Biophys Acta. 1992 May 7;1131(1):114-8. doi: 10.1016/0167-4781(92)90109-d.
Pubmed: 1581353
Gershwin ME, Mackay IR, Sturgess A, Coppel RL: Identification and specificity of a cDNA encoding the 70 kd mitochondrial antigen recognized in primary biliary cirrhosis. J Immunol. 1987 May 15;138(10):3525-31.
Pubmed: 3571977
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
Khan SA, Suryawanshi AR, Ranpura SA, Jadhav SV, Khole VV: Identification of novel immunodominant epididymal sperm proteins using combinatorial approach. Reproduction. 2009 Jul;138(1):81-93. doi: 10.1530/REP-09-0052. Epub 2009 May 7.
Pubmed: 19423663
Shinohara Y, Daikoku T, Kajimoto K, Shima A, Yamazaki N, Terada H: Expression of NAD(+)-dependent isocitrate dehydrogenase in brown adipose tissue. Biochem Biophys Res Commun. 2001 Mar 2;281(3):634-8. doi: 10.1006/bbrc.2001.4351.
Pubmed: 11237704
Brenner V, Nyakatura G, Rosenthal A, Platzer M: Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse. Genomics. 1997 Aug 15;44(1):8-14. doi: 10.1006/geno.1997.4822.
Pubmed: 9286695
Nichols BJ, Hall L, Perry AC, Denton RM: Molecular cloning and deduced amino acid sequences of the gamma-subunits of rat and monkey NAD(+)-isocitrate dehydrogenases. Biochem J. 1993 Oct 15;295 ( Pt 2):347-50. doi: 10.1042/bj2950347.
Pubmed: 8240232
Nakano K, Matuda S, Yamanaka T, Tsubouchi H, Nakagawa S, Titani K, Ohta S, Miyata T: Purification and molecular cloning of succinyltransferase of the rat alpha-ketoglutarate dehydrogenase complex. Absence of a sequence motif of the putative E3 and/or E1 binding site. J Biol Chem. 1991 Oct 5;266(28):19013-7.
Pubmed: 1918017
Henning WD, Upton C, McFadden G, Majumdar R, Bridger WA: Cloning and sequencing of the cytoplasmic precursor to the alpha subunit of rat liver mitochondrial succinyl-CoA synthetase. Proc Natl Acad Sci U S A. 1988 Mar;85(5):1432-6. doi: 10.1073/pnas.85.5.1432.
Pubmed: 3422742
Suzuki T, Sato M, Yoshida T, Tuboi S: Rat liver mitochondrial and cytosolic fumarases with identical amino acid sequences are encoded from a single gene. J Biol Chem. 1989 Feb 15;264(5):2581-6.
Pubmed: 2914923
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, Dugan-Rocha S, Miner G, Morgan M, Hawes A, Gill R, Celera, Holt RA, Adams MD, Amanatides PG, Baden-Tillson H, Barnstead M, Chin S, Evans CA, Ferriera S, Fosler C, Glodek A, Gu Z, Jennings D, Kraft CL, Nguyen T, Pfannkoch CM, Sitter C, Sutton GG, Venter JC, Woodage T, Smith D, Lee HM, Gustafson E, Cahill P, Kana A, Doucette-Stamm L, Weinstock K, Fechtel K, Weiss RB, Dunn DM, Green ED, Blakesley RW, Bouffard GG, De Jong PJ, Osoegawa K, Zhu B, Marra M, Schein J, Bosdet I, Fjell C, Jones S, Krzywinski M, Mathewson C, Siddiqui A, Wye N, McPherson J, Zhao S, Fraser CM, Shetty J, Shatsman S, Geer K, Chen Y, Abramzon S, Nierman WC, Havlak PH, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Li B, Liu Y, Qin X, Cawley S, Worley KC, Cooney AJ, D'Souza LM, Martin K, Wu JQ, Gonzalez-Garay ML, Jackson AR, Kalafus KJ, McLeod MP, Milosavljevic A, Virk D, Volkov A, Wheeler DA, Zhang Z, Bailey JA, Eichler EE, Tuzun E, Birney E, Mongin E, Ureta-Vidal A, Woodwark C, Zdobnov E, Bork P, Suyama M, Torrents D, Alexandersson M, Trask BJ, Young JM, Huang H, Wang H, Xing H, Daniels S, Gietzen D, Schmidt J, Stevens K, Vitt U, Wingrove J, Camara F, Mar Alba M, Abril JF, Guigo R, Smit A, Dubchak I, Rubin EM, Couronne O, Poliakov A, Hubner N, Ganten D, Goesele C, Hummel O, Kreitler T, Lee YA, Monti J, Schulz H, Zimdahl H, Himmelbauer H, Lehrach H, Jacob HJ, Bromberg S, Gullings-Handley J, Jensen-Seaman MI, Kwitek AE, Lazar J, Pasko D, Tonellato PJ, Twigger S, Ponting CP, Duarte JM, Rice S, Goodstadt L, Beatson SA, Emes RD, Winter EE, Webber C, Brandt P, Nyakatura G, Adetobi M, Chiaromonte F, Elnitski L, Eswara P, Hardison RC, Hou M, Kolbe D, Makova K, Miller W, Nekrutenko A, Riemer C, Schwartz S, Taylor J, Yang S, Zhang Y, Lindpaintner K, Andrews TD, Caccamo M, Clamp M, Clarke L, Curwen V, Durbin R, Eyras E, Searle SM, Cooper GM, Batzoglou S, Brudno M, Sidow A, Stone EA, Venter JC, Payseur BA, Bourque G, Lopez-Otin C, Puente XS, Chakrabarti K, Chatterji S, Dewey C, Pachter L, Bray N, Yap VB, Caspi A, Tesler G, Pevzner PA, Haussler D, Roskin KM, Baertsch R, Clawson H, Furey TS, Hinrichs AS, Karolchik D, Kent WJ, Rosenbloom KR, Trumbower H, Weirauch M, Cooper DN, Stenson PD, Ma B, Brent M, Arumugam M, Shteynberg D, Copley RR, Taylor MS, Riethman H, Mudunuri U, Peterson J, Guyer M, Felsenfeld A, Old S, Mockrin S, Collins F: Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature. 2004 Apr 1;428(6982):493-521. doi: 10.1038/nature02426.
Pubmed: 15057822
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 SMP0000549
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