FIG. 7.

VMA21 mutations cause impaired lipid metabolism. (A) BODIPY staining of LDs in control and patient fibroblasts. The staining was performed in untreated samples or on 1 hour 100 nM bafilomycin A1. The results were calculated on 3 independent experiments with >10 cells/genotype. Scale bars: 15 µm. (B) Immunolabeling of unesterified cholesterol by filipin staining in control and patient fibroblasts. The intensity of the staining was calculated on three independent experiments with >10 cells/genotype. Scale bars: 20 µm. (C) Total triglyceride (TAG) levels assayed enzymatically in control and patient fibroblasts. The results were calculated on three independent experiments. All data are mean ± SEM; statistical significance was determined by ordinary one‐way ANOVA followed by a Bonferroni multiple comparisons test. Levels of significance: ns, not significant, *P < 0.05, ***P < 0.001. ****P < 0.0001.