Article
2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
Lipids in health and disease - 20 May 2011
Dan Phyllis, Edvardson Simon, Bielawski Jacek, Hama Hiroko, Saada Ann
Abstract excerpt
Fatty acid 2-hydroxylase (FA2H) is the enzyme responsible for the hydroxylation of free fatty acids prior to their incorporation into 2-hydroxylated sphingolipids, which are the major constituents of the myelin leaflet. Mutated FA2H has been associated with neurodegenerative diseases. Decreased FA2H activity was demonstrated only in vitro, but not in patient tissues. In this study we characterized the...
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