Supplementary materials for the SSR4 article

Information supplementing the SSR4-CDG article. Supplementary Figure S1. HPTLC analysis of total lipids isolated from red blood cell (RBC) ghosts from SSR4-CDG patients and the healthy control. The plates were stained with orcinol for glycosphingolipid detection. Gb4 (globotetraosylceramide) purified from RBC ghosts. Supplementary Figure S2. Glycosphingolipid composition abundances in the control (grey), Patient 1 (red) and Patient 2 (green), quantified from MALDI-TOF spectra as peak areas relative to the reference (shaded). The nomenclature is explained elsewhere; m/z values are given next to the peak IDs. Supplementary Figure S3. Western blotting analysis of Patient 1 (A) and Patient 2 (B) RBC ghosts using anti-glycophorin A antibodies (clones: N61, 6A7, Pep80). N61 recognizes glycophorin A carrying N blood group determinant of MNS system (ISBT No. 002) and glycophorin B. 6A7 binds glycophorin A carrying M blood group determinant of MNS system. Pep80 recognizes glycophorin A irrespective of M/N determinants. GPA, glycophorin A; GPB, glycophorin B. Supplementary Figure S4. Full results of linkage specific sialic acid-derivatizated N-glycomics, with oligomannosidic glycans omitted. Values are relative to the same reference as Fig. 1 (sum of the relative areas of the three Hex2Gn2NeuAc2 glycans). Supplementary Table S1. Sequences of primers used for genotyping. Supplementary Table S2. PCR conditions used for amplification of the A4GALT fragment encompassing the SNP (rs5751348) described by Lai et al. (2014). Supplementary Materials and Methods. Supplementary Materials and Methods.