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Pathway Description
beta-Mercaptolactate-Cysteine Disulfiduria
Rattus norvegicus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
Metcaptolactate-cysteine disulfiduria (MCDU) is an autosomal disorder that leads to the loss of function of the enzyme mercaptopyruvate sulfurtransferase. The condition is characterized by the urinary excretion of large amounts of a sulfur-containing amino acid, which is beta-mercaptolactate-cysteine disulfide. Patients exhibit a low IQ, grand mal seizures, flattened nasal bridge, and an excessively arched palate.
References
beta-Mercaptolactate-Cysteine Disulfiduria References
Hannestad U, Martensson J, Sjodahl R, Sorbo B: 3-mercaptolactate cysteine disulfiduria: biochemical studies on affected and unaffected members of a family. Biochem Med. 1981 Aug;26(1):106-14.
Pubmed: 6945862
Nagahara N, Nagano M, Ito T, Shimamura K, Akimoto T, Suzuki H: Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria. Sci Rep. 2013;3:1986. doi: 10.1038/srep01986.
Pubmed: 23759691
Cysteine Metabolism References
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Pubmed: 15489334
Shibuya N, Mikami Y, Kimura Y, Nagahara N, Kimura H: Vascular endothelium expresses 3-mercaptopyruvate sulfurtransferase and produces hydrogen sulfide. J Biochem. 2009 Nov;146(5):623-6. doi: 10.1093/jb/mvp111. Epub 2009 Jul 15.
Pubmed: 19605461
Nagahara N, Nishino T: Role of amino acid residues in the active site of rat liver mercaptopyruvate sulfurtransferase. CDNA cloning, overexpression, and site-directed mutagenesis. J Biol Chem. 1996 Nov 1;271(44):27395-401. doi: 10.1074/jbc.271.44.27395.
Pubmed: 8910318
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
Hosokawa Y, Matsumoto A, Oka J, Itakura H, Yamaguchi K: Isolation and characterization of a cDNA for rat liver cysteine dioxygenase. Biochem Biophys Res Commun. 1990 Apr 30;168(2):473-8. doi: 10.1016/0006-291x(90)92345-z.
Pubmed: 2334417
Tsuboyama N, Hosokawa Y, Totani M, Oka J, Matsumoto A, Koide T, Kodama H: Structural organization and tissue-specific expression of the gene encoding rat cysteine dioxygenase. Gene. 1996 Nov 28;181(1-2):161-5. doi: 10.1016/s0378-1119(96)00496-9.
Pubmed: 8973325
Nishi N, Tanabe H, Oya H, Urushihara M, Miyanaka H, Wada F: Identification of probasin-related antigen as cystathionine gamma-lyase by molecular cloning. J Biol Chem. 1994 Jan 14;269(2):1015-9.
Pubmed: 8288556
Erickson PF, Maxwell IH, Su LJ, Baumann M, Glode LM: Sequence of cDNA for rat cystathionine gamma-lyase and comparison of deduced amino acid sequence with related Escherichia coli enzymes. Biochem J. 1990 Jul 15;269(2):335-40. doi: 10.1042/bj2690335.
Pubmed: 2201285
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
Yan N, Meister A: Amino acid sequence of rat kidney gamma-glutamylcysteine synthetase. J Biol Chem. 1990 Jan 25;265(3):1588-93.
Pubmed: 1967255
Huang CS, Anderson ME, Meister A: Amino acid sequence and function of the light subunit of rat kidney gamma-glutamylcysteine synthetase. J Biol Chem. 1993 Sep 25;268(27):20578-83.
Pubmed: 8104188
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
Florea L, Di Francesco V, Miller J, Turner R, Yao A, Harris M, Walenz B, Mobarry C, Merkulov GV, Charlab R, Dew I, Deng Z, Istrail S, Li P, Sutton G: Gene and alternative splicing annotation with AIR. Genome Res. 2005 Jan;15(1):54-66. doi: 10.1101/gr.2889405.
Pubmed: 15632090
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 SMP0000499
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