Laboratory diagnosis of Niemann–Pick disease type C: the filipin staining test
MT Vanier, P Latour - Methods in cell biology, 2015 - Elsevier
Niemann–Pick disease type C (NPC) is an atypical neurovisceral lysosomal storage
disorder resulting from mutations in either the NPC1 or the NPC2 gene, currently conceived
as a lipid trafficking disorder. Impaired egress of cholesterol from the late
endosomal/lysosomal (LE/L) compartment is a key element of the pathogenesis. The
resulting accumulation of unesterified cholesterol in the LE/L compartment can be visualized
by fluorescence microscopy after staining with filipin. The “filipin test,” performed on cultured …
disorder resulting from mutations in either the NPC1 or the NPC2 gene, currently conceived
as a lipid trafficking disorder. Impaired egress of cholesterol from the late
endosomal/lysosomal (LE/L) compartment is a key element of the pathogenesis. The
resulting accumulation of unesterified cholesterol in the LE/L compartment can be visualized
by fluorescence microscopy after staining with filipin. The “filipin test,” performed on cultured …