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Comment
. 2013 Jun;5(6):799-801.
doi: 10.1002/emmm.201302781. Epub 2013 May 13.

Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology

Mark S Sands  1
Affiliations
Comment

Farber disease: understanding a fatal childhood disorder and dissecting ceramide biology

Mark S Sands. EMBO Mol Med. 2013 Jun.
No abstract available

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Figures

Figure 1
Figure 1. Acid ceramidase and ceramide actions
Ceramide is a lipid that is sequentially synthesized through several reactions starting with palmitoyl-CoA and l-serine. Ceramide is central to the further synthesis of several key membrane lipids such as sphingomyelin and the glycospohingolipids, galactosylceramide and glucosylceramide. Ceramide has also been shown to be directly involved in a number of biological processes, including lipid raft integrity, inflammation, apoptosis, metabolic syndrome and differentiation, just to name a few. Acid ceramidase (ACDase) is a soluble lysosomal enzyme responsible for the breakdown of ceramide to sphingosine and fatty acid. A deficiency in ACDase activity leads to the accumulation of ceramide in many tissues, the hallmark of Farber disease. Acid ceramidase has also been shown to be involved in the resistance of certain tumor cells to chemotherapeutic agents and has been identified as a tumor marker in other malignancies.
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Comment on

  • Systemic ceramide accumulation leads to severe and varied pathological consequences.
    Alayoubi AM, Wang JC, Au BC, Carpentier S, Garcia V, Dworski S, El-Ghamrasni S, Kirouac KN, Exertier MJ, Xiong ZJ, Privé GG, Simonaro CM, Casas J, Fabrias G, Schuchman EH, Turner PV, Hakem R, Levade T, Medin JA. Alayoubi AM, et al. EMBO Mol Med. 2013 Jun;5(6):827-42. doi: 10.1002/emmm.201202301. Epub 2013 May 16. EMBO Mol Med. 2013. PMID: 23681708 Free PMC article.

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