Figure 5: SF-22 and MK6-83 evoked currents in human patient fibroblasts.
From: A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV
(a–e) Representative currents elicited in lysosomes isolated from human fibroblast cells derived from healthy individuals (a) Individuals with MLIV causing mutations in TRPML1 resulting in the complete loss of TRPML1 protein (TRPML1−/−) (b) or individuals with MLIV causing point mutations in TRPML1: V446L (c) F408Δ (d) and R403C (e). (f) Bar diagram summarizing data at −200 mV from experiments shown in a–c. Recordings shown were obtained with 10 μM SF-22 and 10 μM MK6-83, respectively. (g) Dot plot summarizing data at −200 mV from experiments shown in a–e. Recordings shown were obtained with 10 μM MK6-83, respectively. ***P<0.001, **P<0.01, *P<0.05; n=number of experiments. Data are presented as mean±s.e.m.
