Figure 1.

Expression of PEX6 rescues peroxisomal matrix protein import in PEX1-deficient group 1 cells in an allele-specific fashion. Human fibroblasts from a patient with NALD (PBD118; A–C) and a patient with ZS (PBD009; D–F) were transfected with pcDNA3 (A and C), derivatives of this plasmid designed to express the PEX6 (B and E), or PEX1 (C and F) cDNAs. Two days after transfection, the cells were processed for indirect immunofluorescence to determine the subcellular distribution of catalase, a PTS1-containing protein. Note that PEX6 expression mediated catalase import in the PBD118 cell line (B) but not in PBD009 cells (E) whereas transfection with the expression vector alone had no effect on catalase import in either line. Width of each image panel is 190 μm.