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Pathway Description
Leigh Syndrome
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Leigh Syndrome, also called Leigh Disease or infantile subacute necrotizing encephalopathy, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that is caused by a mutation of any one of 75 different genes. Disruptions of the complexes I or IV are the most common reasons for Leigh syndrome. Complex IV is crucial in the electron transfer steps of oxidative phosphorylation, which is needed to provide energy to the mitochondria. This disorder is characterized by a large accumulation of lactate in the body. Symptoms of the disorder include diarrhea, dysphagia and vomiting. There is no cure for Leigh syndrome and the loss motor skills degenerate rapidly. It is estimated that Leigh syndrome affects 1 in 40,000 individuals.
References
Leigh Syndrome References
Lake NJ, Bird MJ, Isohanni P, Paetau A: Leigh syndrome: neuropathology and pathogenesis. J Neuropathol Exp Neurol. 2015 Jun;74(6):482-92. doi: 10.1097/NEN.0000000000000195.
Pubmed: 25978847
Pyruvate Metabolism References
Lehn DA, Moran SM, MacDonald MJ: The sequence of the rat pyruvate carboxylase-encoding cDNA. Gene. 1995 Nov 20;165(2):331-2. doi: 10.1016/0378-1119(95)00557-m.
Pubmed: 8522203
Jitrapakdee S, Booker GW, Cassady AI, Wallace JC: Cloning, sequencing and expression of rat liver pyruvate carboxylase. Biochem J. 1996 Jun 1;316 ( Pt 2):631-7. doi: 10.1042/bj3160631.
Pubmed: 8687410
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Pubmed: 15489334
Matrisian LM, Rautmann G, Magun BE, Breathnach R: Epidermal growth factor or serum stimulation of rat fibroblasts induces an elevation in mRNA levels for lactate dehydrogenase and other glycolytic enzymes. Nucleic Acids Res. 1985 Feb 11;13(3):711-26. doi: 10.1093/nar/13.3.711.
Pubmed: 3873645
Williams KR, Reddigari S, Patel GL: Identification of a nucleic acid helix-destabilizing protein from rat liver as lactate dehydrogenase-5. Proc Natl Acad Sci U S A. 1985 Aug;82(16):5260-4. doi: 10.1073/pnas.82.16.5260.
Pubmed: 2991914
Noguchi T, Yamada K, Inoue H, Matsuda T, Tanaka T: The L- and R-type isozymes of rat pyruvate kinase are produced from a single gene by use of different promoters. J Biol Chem. 1987 Oct 15;262(29):14366-71.
Pubmed: 3654663
Inoue H, Noguchi T, Tanaka T: Complete amino acid sequence of rat L-type pyruvate kinase deduced from the cDNA sequence. Eur J Biochem. 1986 Jan 15;154(2):465-9. doi: 10.1111/j.1432-1033.1986.tb09420.x.
Pubmed: 3002799
Lone YC, Simon MP, Kahn A, Marie J: Complete nucleotide and deduced amino acid sequences of rat L-type pyruvate kinase. FEBS Lett. 1986 Jan 20;195(1-2):97-100. doi: 10.1016/0014-5793(86)80138-7.
Pubmed: 3080337
Beale EG, Chrapkiewicz NB, Scoble HA, Metz RJ, Quick DP, Noble RL, Donelson JE, Biemann K, Granner DK: Rat hepatic cytosolic phosphoenolpyruvate carboxykinase (GTP). Structures of the protein, messenger RNA, and gene. J Biol Chem. 1985 Sep 5;260(19):10748-60.
Pubmed: 2993287
Lewis CT, Seyer JM, Carlson GM: Cysteine 288: an essential hyperreactive thiol of cytosolic phosphoenolpyruvate carboxykinase (GTP). J Biol Chem. 1989 Jan 5;264(1):27-33.
Pubmed: 2909519
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
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
Ji X, Moore HD, Russell RG, Watts DJ: cDNA cloning and characterization of a rat spermatogenesis-associated protein RSP29. Biochem Biophys Res Commun. 1997 Dec 29;241(3):714-9. doi: 10.1006/bbrc.1997.7880.
Pubmed: 9434774
Achouri Y, Rider MH, Schaftingen EV, Robbi M: Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase. Biochem J. 1997 Apr 15;323 ( Pt 2):365-70. doi: 10.1042/bj3230365.
Pubmed: 9163325
Carper D, Nishimura C, Shinohara T, Dietzchold B, Wistow G, Craft C, Kador P, Kinoshita JH: Aldose reductase and p-crystallin belong to the same protein superfamily as aldehyde reductase. FEBS Lett. 1987 Aug 10;220(1):209-13. doi: 10.1016/0014-5793(87)80905-5.
Pubmed: 3111886
Graham C, Szpirer C, Levan G, Carper D: Characterization of the aldose reductase-encoding gene family in rat. Gene. 1991 Nov 15;107(2):259-67. doi: 10.1016/0378-1119(91)90326-7.
Pubmed: 1748296
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 SMP0000196
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