Fig. 2
From: Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Loss of RNF170 results in decreased degradation of IP3R-3 in patient fibroblasts. a Immunoblot analysis of IP3R-3 in fibroblasts derived from individuals A.4 and C.4 shows increased expression levels in comparison with five controls (Co1, Co2, Co3, Co4, Co5). Western blots from a representative experiment are shown. b Semiquantitative immunoblot analysis indicates significantly increased (Tukey–Kramer HSD, t-sided) IP3R-3 expression. In the quantile blot, boxes indicate the 1st and 3rd quartile and median (center line); whiskers depict the 1st/3rd quartile ± 1.5* interquartile range). c, d IP3R-3 was activated by bradykinin stimulation of fibroblasts to trigger RNF170-dependent IP3R-3 degradation by the proteasomal system. IP3R-3 levels were assessed at baseline as well as 30 and 60 mins after stimulation. Physiological IP3R-3 reduction was observed in all three control cell lines (Co1, Co2, Co3), whereas levels were unaltered in patient-derived fibroblasts (derived from patients A.4 and C.4) (full-factorial repeated measures analysis; means and standard deviations are shown for each data point)
