Article
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Nature communications - 15 May 2023
Sambri Irene, Ferniani Marco, Campostrini Giulia, Testa Marialuisa, Meraviglia Viviana, de Araujo Mariana E G, Dokládal Ladislav, Vilardo Claudia, Monfregola Jlenia, Zampelli Nicolina, Vecchio Blanco Francesca Del, Torella Annalaura, Ruosi Carolina, Fecarotta Simona, Parenti Giancarlo, Staiano Leopoldo, Bellin Milena, Huber Lukas A, De Virgilio Claudio, Trepiccione Francesco, Nigro Vincenzo, Ballabio Andrea
Abstract excerpt
Heterozygous mutations in the gene encoding RagD GTPase were shown to cause a novel autosomal dominant condition characterized by kidney tubulopathy and cardiomyopathy. We previously demonstrated that RagD, and its paralogue RagC, mediate a non-canonical mTORC1 signaling pathway that inhibits the activity of TFEB and TFE3, transcription factors of the MiT/TFE family and master regulators of lysosomal biogenesis...
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