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Article

Ragopathies and the rising influence of RagGTPases on human diseases.

Nature communications - 10 Jul 2024

Sambri Irene, Ferniani Marco, Ballabio Andrea

Abstract excerpt

RagGTPases (Rags) play an essential role in the regulation of cell metabolism by controlling the activities of both mechanistic target of rapamycin complex 1 (mTORC1) and Transcription factor EB (TFEB). Several diseases, herein named ragopathies, are associated to Rags dysfunction. These diseases may be caused by mutations either in genes encoding the Rags, or in their upstream regulators. The resulting...

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Identifiers

PMID: 38987251
DOI: 10.1038/s41467-024-50034-4
PMCID: PMC11237164

Genes

TFEB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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