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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1998 1
2001 1
2002 1
2003 2
2004 1
2006 1
2009 1
2012 1
2013 3
2014 1
2016 2
2019 1
2022 1
2024 0

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PubMed (OMIM) for id: 8869

16 results

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Page 1
GM3 synthase deficiency increases brain glucose metabolism in mice.
Bharathi SS, Zhang BB, Paul E, Zhang Y, Schmidt AV, Fowler B, Wu Y, Tiemeyer M, Inamori KI, Inokuchi JI, Goetzman ES. Bharathi SS, et al. Mol Genet Metab. 2022 Dec;137(4):342-348. doi: 10.1016/j.ymgme.2022.10.006. Epub 2022 Oct 28. Mol Genet Metab. 2022. PMID: 36335793 Free PMC article.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
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. Boccuto L, et al. Hum Mol Genet. 2014 Jan 15;23(2):418-33. doi: 10.1093/hmg/ddt434. Epub 2013 Sep 10. Hum Mol Genet. 2014. PMID: 24026681 Free PMC article.
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
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. Fragaki K, et al. Eur J Hum Genet. 2013 May;21(5):528-34. doi: 10.1038/ejhg.2012.202. Epub 2012 Sep 19. Eur J Hum Genet. 2013. PMID: 22990144 Free PMC article.
Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti.
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. Yoshikawa M, et al. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9483-8. doi: 10.1073/pnas.0903279106. Epub 2009 May 22. Proc Natl Acad Sci U S A. 2009. PMID: 19470479 Free PMC article.
16 results