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

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 ac...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185561/
https://www.ncbi.nlm.nih.gov/pubmed/37188688
http://dx.doi.org/10.1038/s41467-023-38428-2

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