Filipin test for diagnosis of Niemann-Pick disease type C.
The test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. The test is useful for the evaluation of impaired cholesterol esterification in cultured cells (fibroblasts or others) in Niemann-Pick disease type C.
Ledvinová
J
J
Laboratory of Protein Metabolism, 1st Faculty of Medicine, Charles University, Prague, Czech Republic.
Elleder
M
M
D002478:Cells, Cultured; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism*; D004951:Esterification; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005372:Filipin; D006801:Humans; D007223:Infant; D008297:Male; D008856:Microscopy, Fluorescence; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000378:metabolism; D012867:Skin / Q000378:metabolism*
D005372:Filipin; D002784:Cholesterol