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Pathway Description
Fabry Disease
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Fabry disease, also called Anderson-Fabry disease is an X-linked inherited condition that begins in childhood. The symptoms are caused by the buildup of a substance called globotriaosylceramide in cells in the body, due to a mutation in the GLA gene, that causes a malfunction in the production of an enzyme called alpha-galactosidase A, which, when functioning properly, breaks down globotriaosylceramide. The symptoms include angiokeratomas, tinnitus, episodes of pain in the hands and feet and corneal opacity. This condition can also lead to severe complications such as heart attack, stroke and kidney damage.
References
Fabry Disease References
Mehta A, Hughes DA: Fabry Disease
Pubmed: 20301469
Taguchi A, Maruyama H, Nameta M, Yamamoto T, Matsuda J, Kulkarni AB, Yoshioka H, Ishii S: A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis. Biochem J. 2013 Dec 15;456(3):373-83. doi: 10.1042/BJ20130825.
Pubmed: 24094090
Sphingolipid Metabolism 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.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Egawa K, Yoshiwara M, Shibanuma M, Nose K: Isolation of a novel ras-recision gene that is induced by hydrogen peroxide from a mouse osteoblastic cell line, MC3T3-E1. FEBS Lett. 1995 Sep 18;372(1):74-7. doi: 10.1016/0014-5793(95)00957-b.
Pubmed: 7556647
Kai M, Wada I, Imai S, Sakane F, Kanoh H: Identification and cDNA cloning of 35-kDa phosphatidic acid phosphatase (type 2) bound to plasma membranes. Polymerase chain reaction amplification of mouse H2O2-inducible hic53 clone yielded the cDNA encoding phosphatidic acid phosphatase. J Biol Chem. 1996 Aug 2;271(31):18931-8. doi: 10.1074/jbc.271.31.18931.
Pubmed: 8702556
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Pubmed: 16141072
O'Neill RR, Tokoro T, Kozak CA, Brady RO: Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci U S A. 1989 Jul;86(13):5049-53. doi: 10.1073/pnas.86.13.5049.
Pubmed: 2740343
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
Ohshima T, Murray GJ, Nagle JW, Quirk JM, Kraus MH, Barton NW, Brady RO, Kulkarni AB: Structural organization and expression of the mouse gene encoding alpha-galactosidase A. Gene. 1995 Dec 12;166(2):277-80. doi: 10.1016/0378-1119(95)00592-7.
Pubmed: 8543175
Oeltjen JC, Liu X, Lu J, Allen RC, Muzny D, Belmont JW, Gibbs RA: Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995 May;6(5):334-8.
Pubmed: 7626884
Gotlib RW, Bishop DF, Wang AM, Zeidner KM, Ioannou YA, Adler DA, Disteche CM, Desnick RJ: The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A. Biochem Mol Med. 1996 Apr;57(2):139-48.
Pubmed: 8733892
Hasegawa T, Yamaguchi K, Wada T, Takeda A, Itoyama Y, Miyagi T: Molecular cloning of mouse ganglioside sialidase and its increased expression in Neuro2a cell differentiation. J Biol Chem. 2000 Mar 17;275(11):8007-15. doi: 10.1074/jbc.275.11.8007.
Pubmed: 10713120
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
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 SMP0000525
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