Fig. 5
From: Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Reduced peroxisomes in fibroblasts derived from Individuals A.II-3 and B.II-1. Images showing PMP70- (A, upper panels) and PEX13-positive (A, middle panels) peroxisomes. PEX13 localizes in a subset of PMP70-positive peroxisomes (A, bottom panels). Quantification of PMP70- (B, top graph) and PEX13-positive (B, bottom graph) peroxisomes in fibroblasts: ZSD patients display fewer PMP70-positive peroxisomes and severely impaired expression of PEX13-positive peroxisomes. Each dot represents the value obtained from the analysis of a different biological replicate, in which 200 cells were imaged and analyzed. Lines indicate means ± SD, n = 50. Morphological analysis of PMP70- (C, top graph) and PEX13-positive (C, bottom graph) peroxisomes in fibroblasts: ZSD patients display enlarged PEX13-positive peroxisomes, while the size of overall PMP70-positive peroxisomes is not affected. Each dot represents the value obtained from the analysis of a different region (having area of 0.1 mm2) in which all PMP70- or PEX13-positive peroxisomes were imaged and analyzed. Lines indicate means ± SD, n = 9. Symbols indicate statistical significance versus pooled values of controls: ***, p < 0.001. Scale bar: 50 µm