Figure 2. Subjects with UPS14 variants exhibit increased proteasome activity.
Ten micrograms of native cell lysates generated from T cells of a healthy donor (HD) and subjects carrying the p.(Arg330*) and/or p.(Leu3Pro) USP14 variants were incubated at 37°C on a 96-well plate in a final 100 μl volume containing 0.1 mM of the Suc-LLVY-AMC fluorogenic peptide. Fluorescence activity reflecting proteasome chymotrypsin-like activity was measured at 360/460 nm on a microplate reader over a 180-min period of time, as indicated. ***p<0.001 (unpaired two-tailed t test, n=4).