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Select item 110618031.

GM3 synthase deficiency increases brain glucose metabolism in mice

Sivakama S. Bharathi, Bob B. Zhang, Eli Paul, Yuxun Zhang, Alexandra V. Schmidt, Benjamin Fowler, Yijen Wu, Michael Tiemeyer, Kei-ichiro Inamori, Jin-ichi Inokuchi, Eric S. Goetzman

Mol Genet Metab. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Mol Genet Metab. 2022 Dec; 137(4): 342–348. Published online 2022 Oct 28. doi: 10.1016/j.ymgme.2022.10.006

PMCID:: PMC11061803

Abstract Article PDF–757K

Select item 38693622.

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation

Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan-Steet, Chin-Fu Chen, Xiang Fan, Frank Bartel, Marharyta Petukh, Ayla Pittman, Robert Saul, Alka Chaubey, Emil Alexov, Michael Tiemeyer, Richard Steet, Charles E. Schwartz

Hum Mol Genet. 2014 Jan 15; 23(2): 418–433. Published online 2013 Sep 10. doi: 10.1093/hmg/ddt434

PMCID:: PMC3869362

Abstract Article PDF–1.4M

Select item 36413793.

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

Konstantina Fragaki, Samira Ait-El-Mkadem, Annabelle Chaussenot, Catherine Gire, Raymond Mengual, Laurent Bonesso, Marie Bénéteau, Jean-Ehrland Ricci, Valérie Desquiret-Dumas, Vincent Procaccio, Agnès Rötig, Véronique Paquis-Flucklinger

Eur J Hum Genet. 2013 May; 21(5): 528–534. Published online 2012 Sep 19. doi: 10.1038/ejhg.2012.202

PMCID:: PMC3641379

Abstract Article PDF–917K

Select item 26950604.

Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti

Misato Yoshikawa, Shinji Go, Kotaro Takasaki, Yasuhiro Kakazu, Mitsuru Ohashi, Masakazu Nagafuku, Kazuya Kabayama, Junji Sekimoto, Shun-ichi Suzuki, Kazutaka Takaiwa, Takashi Kimitsuki, Nozomu Matsumoto, Shizuo Komune, Daisuke Kamei, Masaki Saito, Michihiro Fujiwara, Katsunori Iwasaki, Jin-ichi Inokuchi

Proc Natl Acad Sci U S A. 2009 Jun 9; 106(23): 9483–9488. Published online 2009 May 22. doi: 10.1073/pnas.0903279106

PMCID:: PMC2695060

Abstract Article PDF–2.9M

Select item 1523125.

Enhanced insulin sensitivity in mice lacking ganglioside GM3

Tadashi Yamashita, Akira Hashiramoto, Martin Haluzik, Hiroki Mizukami, Shoshannah Beck, Aaron Norton, Mari Kono, Shuichi Tsuji, Jose Luis Daniotti, Norbert Werth, Roger Sandhoff, Konrad Sandhoff, Richard L. Proia

Proc Natl Acad Sci U S A. 2003 Mar 18; 100(6): 3445–3449. Published online 2003 Mar 10. doi: 10.1073/pnas.0635898100

PMCID:: PMC152312

Abstract Article PDF–244K

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