Accumulation of p62/SQSTM1 has been reported in the endosomal/lysosomal fraction of npc1-/- mouse brain lysates [31], cultured fibroblasts of Fabry patients [32], mucolipidosis type II, III [33] and type IV (MLIV) fibroblasts [34], muscle fibers of Pompe disease [35], and brain of Gaucher disease mice model [36]. The gene discussed is NPC1; the disease is mucolipidosis type II.