Figure 2From: 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individualsWestern blot analysis of expressed MCCC1 wildtype and mutant proteins. Constructs with MCCC1 wildtype and 3 mutant cDNAs in pTracer vector were transfected into MCCC1 deficient reference cell lines by electroporation and harvested 48 hours later for Western blot analysis. 50 μg of protein were used per lane. The MCCC1 subunit was visualized by a) immunostaining using β-actin (4 μg) as control, or by b) colorimetric reaction after coupling with avidin-alkaline phosphatase. Transfection with an empty vector (vector only) was used as a negative control. For further details see “Methods”.Back to article page