Figure 1: Subcellular localization of MLIV causing point mutants of TRPML1.
From: A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV
(a) Representative images of WT and selected MLIV causing mutant isoforms of human TRPML1 overexpressed in WT fibroblasts. Depicted mutants show predominant endolysosomal localization. All WT and mutant variants were cloned with YFP in fusion at the C terminus. Cells were transfected for 24–48 h and incubated with LysoTracker Deep Red (100 nM) for 30 min at 37 °C before confocal analysis. Scale bar, 20 μm. (b) Cartoon of the human TRPML1 protein illustrating the estimated positions of known MLIV causing TRPML1 point mutations in exon regions. (c) Pearson Correlation Coefficients (PCC) to quantify the colocalization of TRPML1 WT and mutant isoforms with LysoTracker Deep Red. Shown are mean PCC values±s.e.m. of at least 10 cells, each; **P<0.01, *P<0.05. Statistical significance was determined via one-way analysis of variance followed by Tukey’s post test.
