Fig. 2

Study of protein signature of white blood cells derived from CHRNE-patients. (a) Schematic representation of proteomic workflow applied on white blood cells derived from CHRNE-patients and healthy controls. (b) Proteingenic changes are shown in the heatmap on the individual protein level. (c) Volcano plot depicting statistically significant dysregulated proteins in white blood cells of CHRNE-patients. Increased proteins are represented by purple dots wereas decreased proteins are represented by organge dots. (d) GO-term based in silico analysis of pathways affected by protein dysregulations affected by upregaulated and downregulated proteins, respectively. (e) Box plots highlighting the increase of SCAMP2 and SNX2 as two proteins relevant for vesicular transport in cells derived from CHRNE-patients compared to controls