Fig. 1: Deficiency of progranulin leads to ganglioside accumulation in mouse and human brain tissues.
From: Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
a Ganglioside degradation pathway in the lysosome. The names of glycosyl hydrolases (green), activator proteins (purple), and associated metabolic diseases (red) are indicated in the scheme. b Quantification of mono-sialyated and di-sialyated ganglioside species isolated from Grn+/+ (gray) (n = 6), Grn+/R493X (blue) (n = 4), and GrnR493X/R493X (purple) (n = 4) mouse brains. c Quantification of mono-sialyated and di-sialyated ganglioside species isolated from the frontal lobes of control (pink), FTD-TDP43-A (sporadic-non-GRN) (green), and FTD-TDP43-A (GRN) (blue) human brains. Box plots display mean ± the minimum and maximum number in the data set of control (n = 3), FTD-TDP43-A (sporadic-non-GRN) (n = 6) or FTD-TDP43-A (GRN) (n = 12). Box plots display mean ± the minimum and maximum number. One-way ANOVA, followed by multigroup comparison (Dunn’s) test, was performed. *p < 0.05, **p < 0.01. G is for ganglioside; M/D/T are for monosialic, disialic, or trisialic; and the number refers to the order of discovery. GM2-AP GM2 ganglioside activator protein, SAP-B/C/D saposin-B/C/D, GLB1 galactosidase beta 1, HEXA beta-hexosaminidase subunit alpha, NEU3/4 neuraminidase 3/4, GALC galactosylceramidase, GCase glucosylceramidase beta, ASAH1 N-acylsphingosine amidohydrolase 1, SAP-C/D saposin-C/D.
