Fig 1: Identification and validation of differentially abundant proteins in NPC1 serum: (a) Volcano plot of differentially abundant proteins comparing NPX values of NPC1 individuals at baseline not receiving miglustat compared to healthy pediatric control, Proteins with adjusted p-value < 0.1 and adjusted log2FC + 1 and − 1 were considered increased and decreased, respectively. All the proteins with adjusted p-values < 0.1 are highlighted in red and proteins selected for validation are labelled. ELISA validation of expression levels of (b) TREM2, (c) AgRP, (d) NPY, (e) HSD17B14, (f) GPNMB, (g) Cathepsin L, (h) CCL18, and (i) BDNF