Article
Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.
Human molecular genetics - 15 Apr 2007
Sun Ying, Witte David P, Zamzow Matt, Ran Huimin, Quinn Brian, Matsuda Junko, Grabowski Gregory A
Abstract excerpt
Saposins (A, B, C and D) are approximately 80 amino acid stimulators of glycosphingolipid (GSL) hydrolases that derive from a single precursor, prosaposin. In both humans and mice, prosaposin/saposin deficiencies lead to severe neurological deficits. The CD-/- mice with saposin C and D combined deficiencies were produced by introducing genomic point mutations into a critical cysteine in each of these saposins....
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