Integrated patient induced pluripotent stem cell models and Gaa-/- mice reveal central nervous system neural pathology in infantile-onset Pompe disease

Figure 3 Central nervous system lysosomal pathology in Gaa^-/- mice. A: Schematic overview of tissue sampling from the brain and spinal cord of 3-month-old Gaa^-/- mice; B: PAS staining reveals glycogen accumulation (magenta granules) in the cerebral cortex and hippocampus of Gaa^-/- mice. Scale bar = 200 μm; C: PAS staining reveals glycogen accumulation (magenta granules) in the spinal cord ventral horn of Gaa^-/- mice. Scale bar = 50 μm; D: Immunofluorescence co-staining of neural markers MBP, GFAP or TUBB3 with the lysosomal marker LAMP2 revealed pronounced lysosomal pathology in the cerebrum of Gaa^-/- mice. Scale bar = 20 μm; E: Immunofluorescence co-staining for neural marker MBP, GFAP or ChAT with the lysosomal marker LAMP2 shows pronounced lysosomal pathology in the spinal cord of Gaa^-/- mice. Scale bar = 20 μm. WT: Wild-type; GAA: Acid α-glucosidase.