ATP13A2 and neuroblastoma: However, several different studies on the cultured KRS-patient dermal fibroblasts and other types of ATP13A2-deficient cell lines such as human neuroblastoma SHSY5Y cells determined that loss of functional ATP13A2 leads to instability of the lysosomal membrane and subsequently impaired lysosomal proteolysis function, which is essential to the lysosomal-mediated proper protein and mitochondrial quantity and quality control pathways within neurons (Dehay et al. 2012; Gusdon et al. 2012; Tofaris 2012); see Fig. 1d.