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PubMed (OMIM) for id: 29956

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Page 1
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simões RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R. Bertrand RE, et al. Genet Med. 2021 Mar;23(3):488-497. doi: 10.1038/s41436-020-01003-x. Epub 2020 Oct 20. Genet Med. 2021. PMID: 33077892 Free PMC article.
Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levels.
Ben-David O, Pewzner-Jung Y, Brenner O, Laviad EL, Kogot-Levin A, Weissberg I, Biton IE, Pienik R, Wang E, Kelly S, Alroy J, Raas-Rothschild A, Friedman A, Brügger B, Merrill AH Jr, Futerman AH. Ben-David O, et al. J Biol Chem. 2011 Aug 26;286(34):30022-33. doi: 10.1074/jbc.M111.261206. Epub 2011 Jun 24. J Biol Chem. 2011. PMID: 21705317 Free PMC article.
A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy.
Pewzner-Jung Y, Brenner O, Braun S, Laviad EL, Ben-Dor S, Feldmesser E, Horn-Saban S, Amann-Zalcenstein D, Raanan C, Berkutzki T, Erez-Roman R, Ben-David O, Levy M, Holzman D, Park H, Nyska A, Merrill AH Jr, Futerman AH. Pewzner-Jung Y, et al. J Biol Chem. 2010 Apr 2;285(14):10911-23. doi: 10.1074/jbc.M109.077610. Epub 2010 Jan 28. J Biol Chem. 2010. PMID: 20110366 Free PMC article.