Figure 4

Consequence of the CLN5 _FinMajor disease mutation on the trafficking of PPT1/CLN1 in HeLa cells. HeLa cells were transiently transfected with the wt CLN5 together with wt PPT1 (A-C), or CLN5_FinMajor alone (D-F), or CLN5_FinMajor carrying the most common vLINCL_Fin mutation together with wt PPT1 (G-K). The cells were fixed with methanol 48 h post transfection, stained and analyzed by confocal microscopy. The wt proteins co-localized with each other completely (A-C). When CLN5_FinMajor was expressed alone, it was retained in the ER and did not co-localize with the lysosomal marker LAMP-1 (D-F). When CLN5_FinMajor was co-expressed with wt PPT1, the proteins co-localized in the lysosomes (G-K). Scale bar 10 μm.