CLCN5 and Dent disease: In conclusion, in this work we have generated new cell models of Dent disease that accurately reproduce ClC-5 defects previously described in CLCN5 KO mice and DD1 patients and we have demonstrated that, besides the established critical function of ClC-5 in endocytosis, there are other mutation-associated pathways that could be relevant for the etiopathogenesis of DD1, likely explaining the phenotypic variability of DD1 patients.