Daniël Blom, Dave Speijer, Gabor E. Linthorst, Wilma G

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Recombinant Enzyme Therapy for Fabry Disease: Absence of Editing of Human α- Galactosidase A mRNA Daniël Blom, Dave Speijer, Gabor E. Linthorst, Wilma G. Donker-Koopman, Anneke Strijland, M.F.G. Johannes Aerts The American Journal of Human Genetics Volume 72, Issue 1, Pages 23-31 (January 2003) DOI: 10.1086/345309 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Apparent absence of α-gal A mRNA editing. RT-PCR followed by RsaI digestion of macrophage- and fibroblast-derived RNA. A, Schematic overview of expected RsaI digestion fragment pattern. B, lanes 1 and 2, patterns for fibroblasts of two control subjects; lanes 3–5, patterns for macrophages of three control subjects. The American Journal of Human Genetics 2003 72, 23-31DOI: (10.1086/345309) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Recombinant α-galactosidase contains only “unedited” peptide sequence. A, Schematic representation of the editing site of human α-gal A mRNA and the resulting amino acid change. B, Full mass spectrum of agalsidase β. The X-axis indicates mass/charge values (m/z); the Y-axis indicates the relative intensity of detected ions (%). Identified peptides derived from α-gal A are indicated with their mass value. C, Enlargement of the 1,130–1,330 m/z range of panel B, with the isotopic distribution around the m/z 1,158.54 and 1,286.64 peaks. X-axis and Y-axis as in panel B. The American Journal of Human Genetics 2003 72, 23-31DOI: (10.1086/345309) Copyright © 2003 The American Society of Human Genetics Terms and Conditions