FIGURE 4.

Functional analysis of missense variants in ARSG found in this study. (A) Total sulfatase activity of cell lysates from untransfected cells, or cells transfected with WT ARSG and mutated variants, against the artificial substrate pNCS, represented as the percentage of turnover in untransfected cells. N = 3 biological replicates and three technical replicates. Unpaired, two‐tailed t‐test, mean ± SEM of the biological replicates are shown. (B) Immunoblot analysis of untransfected or stably transfected HT1080 cells, with plasmids coding for 3xFLAG tagged ARSG (WT), along with its form carrying the pathogenic variants (p.Pro213Leu, p.Arg384Trp, and p.Arg99His). Antibodies are against FLAG; GAPDH was used as a loading control.