FIGURE
Fig. 3
- ID
- ZDB-FIG-250602-3
- Publication
- Bögershausen et al., 2025 - SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis
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Fig. 3
The c.333del variant affects sugar processing as well as several important intracellular pathways. (A) Results of liquid chromatography–mass spectrometry on serum from individual V-8 indicate a mild reduction of galactose and sialic acid residues. Altered peaks are enlarged for clarity or indicated by a red arrow. Heatmaps of deregulated pathways indicate that loss of SEC24C may influence the (B) “proteasome,” (C) “autophagy,” and (D) “N-glycan biosynthesis” pathways (n = 3/group). |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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