Figure 5

Consequences of the INCL disease mutations on the trafficking of CLN5. (A) HeLa cells were transiently transfected with wt CLN5 and PPT1_Fin, carrying the most common INCL causing mutation. Cells were fixed with methanol 48 h post transfection, stained and analyzed by confocal microscopy. When wt CLN5 was co-expressed with wt PPT1_Fin, wt CLN5 was able to traffic to lysosomes, whereas PPT1_Fin retained in the ER. Scale bar 10 μm. (B) The GST-mCLN5 was used to pull down PPT1 carrying INCL disease mutations (PPT_Fin or the adult-onset causing mutation) and wild type CLN1/PPT1 from COS-1 cell lysates. Both PPT_Fin and the adult-onset mutations maintained their interaction with CLN5.