A recent study using sialidosis neurons from two sialidosis-iPSCs with NEU1 mutations either of p.D176G or of p.P316S revealed functional and molecular abnormalities such as defective presynaptic exocytosis and excessive enhancement of α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate receptor (AMPAR)-evoked Ca2+ influx in sialidosis patients [24]. This evidence concerns the gene NEU1 and sialidosis.