Furthermore, SH-SY5Y neuroblastoma cells expressing these PS2 mutants and FAD-PS2 patient-derived fibroblasts showed a blockade in the late phase of autophagy [174], as demonstrated by an increase of LC3-II and SQSTM1/p62 levels, and alteration of the RAB7-dependent autophagosome-lysosome fusion step as a consequence of the alteration of the Ca2+ content of intracellular stores and cytosolic Ca2+ signaling [174]. The gene discussed is SQSTM1; the disease is neuroblastoma.