Article
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes.
Genomics - 1 Feb 2002
Li Chi-Ming, Park Jae-Ho, Simonaro Calogera M, He Xingxuan, Gordon Ronald E, Friedman Adriana-Haimovitz, Ehleiter Desiree, Paris Francois, Manova Katia, Hepbildikler Stefan, Fuks Zvi, Sandhoff Konrad, Kolesnick Richard, Schuchman Edward H, Hepbiloikler Stefan
Abstract excerpt
Ceramide is an important cellular lipid involved in signal transduction and the biosynthesis of complex sphingolipids. It can be hydrolyzed into sphingosine, another important signaling lipid, by the activity of ceramidases. Point mutations in the gene (Asah1) encoding one ceramidase, acid ceramidase (AC), lead to the lysosomal storage disorder Farber disease (FD). To investigate the role of AC in mammalian...
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