Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

Figure 3

(a) Family Pedigree. Squares indicate men; circles, women; diagonal lines, deceased; black, VCP mutation. An arrow indicates the proband. (b) ATPase activity data that shows that the G97E (Gly97Glu mutation) has increased ATPase activity similar to other mutants. The detailed method was described previously [6]. Purified human p97 proteins (25 nM monomer final concentration) were used in Assay Buffer (50 mM Tris pH 7.4, 20 mM MgCl₂, 1 mM EDTA, and 0.5 mM TCEP) containing 0.01% Triton X-100 and 200 μM ATP. ATPase activity was determined by addition of Biomol Green Reagent (Enzo Life Sciences). Absorbance at 635 nm was measured after 4 min on the Synergy Neo Microplate Reader (BioTek).

(a)

(b)