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Filipin staining of intracellular unesterified cholesterol. (a) Normal fibroblasts; (b and d) NPC fibroblasts treated for 10 days with vehicle showed a massive lysosomal accumulation of unesterified cholesterol; (c and e) NPC fibroblasts treated for 10 days with MG132 50 nM. Only in cells carrying the p.N1156S, p.L1191F, p.V1165M and p.I1061T NPC1 mutations (NPC-4, NPC-5, NPC-6, NPC-7) showed a reduction of intracellular cholesterol staining
