Fig. 2

Overview of NP-C1 patient fibroblasts analyses. Strip plots show results of assays for the four phenotypic subgroups. Solid circles represent individual patient cell lines. Numbers adjacent to the circles represent patient number. The long-dashed and dashed horizontal lines represent the average control levels and standard error of means, respectively. Asterisks above the boxplots (2a, 2b, 2d, 2e) mark groups that differ significantly from controls. The groups were compared by one-way ANOVA test followed by post-hoc Tukey’s HSD test adjusted for unequal sample sizes. aNPC1 mRNA expression level, b NPC1 protein level by Western Blotting, c endosomal / lysosomal localisation of NPC1 protein. NPC1 vs. LAMP2 Object Pearson’s colocalization coefficient, d unesterified cholesterol / cholesterol ester ratio by MS/MS, e direct filipin staining of cellular unesterified cholesterol, f cholesterol esterification rate of LDL-derived cholesterol