Gel from Scientific Research

Western blot analysis of UGGT1 protein in WCL (left) and cell culture supernatants (right) from healthy control subjects fibroblasts (GM1652, GM5381, and GM8447, colored blue) and affected individuals with the homozygous UGGT1 variant p.Arg1546*(family 9: II-1 and II-2, labeled as BAB15130 and BAB15131, respectively, colored red), demonstrating a severe reduction in UGGT1 protein levels in patient WCLs with a concomitant increase in secreted UGGT1 protein (UGGT1 molecular weight = ~177 kDa).

DOI