RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

Nature communications

Irene Sambri, Marco Ferniani, Giulia Campostrini, …, Francesco Trepiccione, Vincenzo Nigro, Andrea Ballabio

• DOI: 10.1038/s41467-023-38428-2
• PMID: 37188688
• PMCID: PMC10185561