RagD Auto-Activating Mutations Impair MIT/TFE Activity in Kidney Tubulopathy and Cardiomyopathy Syndrome

By using HeLa and HK-2 cell lines, human induced pluripotent stem cell-derived cardiomyocytes, and patient-derived primary fibroblasts, researchers showed that RRAGD auto-activating mutations lead to inhibition of TFEB and TFE3 nuclear translocation and transcriptional activity.