Fig. 2

Reduced VPS13C protein expression in lymphoblast cells and brain lysates of mutation carriers. a Relative VPS13C mRNA expression levels of family A and unrelated control individuals (n = 3) in lymphoblast cells. b Representative immunoblots of endogenous VPS13C expression in family A and unrelated control individuals (n = 3) in lymphoblast cells. c Quantification of VPS13C protein expression, normalized with the expression of GAPDH in lymphoblast cells. Error bars represent standard deviation. d–e Representative immunoblots of endogenous VPS13C protein expression in lymphoblast cells of patient and control carriers with homozygous or compound heterozygous mutations in VPS13C, and unrelated control individuals (n = 4). f Representative immunoblots of endogenous VPS13C protein expression in brains of patient carrier P1 and P3 and two unrelated control individuals. Protein levels were measured in the prefrontal cortex (d), the temporal cortex (e), the cerebellar cortex (f), the hippocampus (g), the substantia nigra (h), the caudate nucleus (i) and the putamen (j); **0.001 < P < 0.01; *** 0.0001 < P < 0.001; ****P < 0.0001