Fig. 3: FA2H variant expression and effect on ceramide species hydroxylation.
From: A novel neurodegenerative spectrum disorder in patients with MLKL deficiency
a Protein level expression of non-variant (NV) FA2H in relation to the FA2H variant carried by the patients studied here (FA2H F11del), variants described in HSP patients (R235C, L77R and Y170X), and the negative control empty vector (EV) in transduced CHO-K1 cells. The molecular weight, in kilodaltons (kDa), of the truncated low-abundance FA2H Y170X protein, relative to the marker, is denoted by the arrow. GAPDH was used as the loading control. b Percentage of hydroxylated hexosylaceramides, relative to the total level of hydroxylated lipids in CHO-K1 cells that were non-transduced (NT), transduced with an empty vector (EV), or transduced to express non-variant (NV) FA2H, the patients’ FA2H protein variant (F11del), or those from hereditary spastic paraplegia patients (R235C, L77R and Y170X). c Percentage of hydroxylated ceramides, relative to the total level of hydroxylated lipids in control and transduced CHO-K1 cells. Error bars indicate the standard error of the mean. NS indicates no significant difference. Asterisks indicate a significant difference (**denotes P < 0.01; ***denotes P < 0.001; ****denotes P < 0.0001).
