Fluorescent Derivatives of Sphingomyelin: Synthesis, Use as Substrates for Sphingomyelinase and for Diagnosis of Niemann-Pick Disease in Cultured Cells
Several fluorescent derivatives of sphingomyelin have been synthesized and used as substrates for the acidic (lysosomal) or neutral (magnesium-dependent) sphingomyelinases of rat brain. These compounds were also successfully employed for demonstrating the deficiency of the enzyme in cells (skin fibroblasts or lymphoid cell lines) derived from patients with Niemann-Pick disease, Types A or B. The differences between the lipidotic and normal cells were demonstrated using cell extracts as well as intact, living cells “loaded” with the fluorescent sphingomyelin.
KeywordsSkin Fibroblast Human Skin Fibroblast Fluorescent Derivative Lymphoid Cell Line Culture Cell Extract
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