| 1 | EIOS, SAPS, ST3GAL5
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| A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
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| Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE.
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| Hum Mol Genet 23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10.
2014
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| 2 | EIOS, ST3GAL5
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| Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
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| Fragaki K, Ait-El-Mkadem S, Chaussenot A, Gire C, Mengual R, Bonesso L, Bénéteau M, Ricci JE, Desquiret-Dumas V, Procaccio V, Rötig A, Paquis-Flucklinger V.
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| Eur J Hum Genet 21(5):528-34. doi: 10.1038/ejhg.2012.202. Epub 2012 Sep 19.
2013
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| 3 | ST3GAL5
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| Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease.
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| Natoli TA, Husson H, Rogers KA, Smith LA, Wang B, Budman Y, Bukanov NO, Ledbetter SR, Klinger KW, Leonard JP, Ibraghimov-Beskrovnaya O.
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| Hum Mol Genet 21(15):3397-407. doi: 10.1093/hmg/dds172. Epub 2012 May 4. 2012
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| 4 | ST3GAL5
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| Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
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| Paccalet T, Coulombe Z, Tremblay JP.
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| PLoS One 5(4):e10055. doi: 10.1371/journal.pone.0010055.
2010
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| 5 | ST3GAL5
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| GM3 synthase overexpression results in reduced cell motility and in caveolin-1 upregulation in human ovarian carcinoma cells.
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| Prinetti A, Aureli M, Illuzzi G, Prioni S, Nocco V, Scandroglio F, Gagliano N, Tredici G, Rodriguez-Menendez V, Chigorno V, Sonnino S.
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| Glycobiology 20(1):62-77. doi: 10.1093/glycob/cwp143. Epub 2009 Sep 16.
2010
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| 6 | ST3GAL5
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| Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti.
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| Yoshikawa M, Go S, Takasaki K, Kakazu Y, Ohashi M, Nagafuku M, Kabayama K, Sekimoto J, Suzuki S, Takaiwa K, Kimitsuki T, Matsumoto N, Komune S, Kamei D, Saito M, Fujiwara M, Iwasaki K, Inokuchi J.
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| Proc Natl Acad Sci U S A 106(23):9483-8. doi: 10.1073/pnas.0903279106. Epub 2009 May 22.
2009
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| 7 | ST3GAL5
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| The cytoplasmic tail of GM3 synthase defines its subcellular localization, stability, and in vivo activity.
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| Uemura S, Yoshida S, Shishido F, Inokuchi J.
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| Mol Biol Cell 20(13):3088-100. doi: 10.1091/mbc.E08-12-1219. Epub 2009 May 6.
2009
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| 8 | ST3GAL5
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| Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts.
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| Liu Y, Su Y, Wiznitzer M, Epifano O, Ladisch S.
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| Glycobiology 18(8):593-601. doi: 10.1093/glycob/cwn039. Epub 2008 May 14.
2008
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| 9 | ST3GAL5
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| Human GM3 synthase: a new mRNA variant encodes an NH2-terminal extended form of the protein.
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| Berselli P, Zava S, Sottocornola E, Milani S, Berra B, Colombo I.
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| Biochim Biophys Acta 1759(7):348-58. Epub 2006 Jul 21. 2006
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| 10 | ST3GAL5, EIOS
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| Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
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| Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH.
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| Nat Genet 36(11):1225-9. Epub 2004 Oct 24. 2004
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| 11 | ST3GAL5
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| Involvement of CREB in the transcriptional regulation of the human GM3 synthase (hST3Gal V) gene during megakaryocytoid differentiation of human leukemia K562 cells.
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| Choi HJ, Chung TW, Kang NY, Kim KS, Lee YC, Kim CH.
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| Biochem Biophys Res Commun 313(1):142-7. 2004
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| 12 | ST3GAL5
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| Isolation and characterization of the promoter region of the human GM3 synthase gene.
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| Kim SW, Lee SH, Kim KS, Kim CH, Choo YK, Lee YC.
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| Biochim Biophys Acta 1578(1-3):84-9. 2002
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| 13 | ST3GAL5
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| Genomic structure of human GM3 synthase gene (hST3Gal V) and identification of mRNA isoforms in the 5'-untranslated region.
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| Kim KW, Kim SW, Min KS, Kim CH, Lee YC.
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| Gene 273(2):163-71. 2001
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| 14 | ST3GAL5
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| Expression cloning of mouse cDNA of CMP-NeuAc:Lactosylceramide alpha2,3-sialyltransferase, an enzyme that initiates the synthesis of gangliosides.
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| Fukumoto S, Miyazaki H, Goto G, Urano T, Furukawa K, Furukawa K.
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| J Biol Chem 274(14):9271-6. 1999
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| 15 | ST3GAL5
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| Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase.
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| Ishii A, Ohta M, Watanabe Y, Matsuda K, Ishiyama K, Sakoe K, Nakamura M, Inokuchi J, Sanai Y, Saito M.
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| J Biol Chem 273(48):31652-5. 1998
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