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. Author manuscript; available in PMC: 2024 Jul 12.
Published in final edited form as: Genet Med. 2024 Mar 10;26(6):101120. doi: 10.1016/j.gim.2024.101120

Figure 6. Mass spectral analysis of whole-cell lysates derived from patient cells reveals decreased expression and N-terminal methionine processing of the Leu3Pro (L3P) USP14 variant.

Figure 6.

A. Coomassie-stained SDS-PAGE of protein lysates from subjects carrying the p.(Arg330*) and/or p.(Leu3Pro) USP14 variants, as indicated. Gel slices excised for trypsin digestion and subsequent mass spectrometry analysis are indicated in red. B. Quantification of wild-type (wt) and Leu3Pro (L3P) USP14 peptides by MS using a PRM (parallel reaction monitoring) method. C. Table recapitulating the identification of N-terminal methionine untrimmed and trimmed USP14 wild-type (WT)- and Leu3Pro-derived peptides found in USP14 immuno-precipitates of each sample, as indicated.