Ragopathies and the rising influence of RagGTPases on human diseases

Irene Sambri, Marco Ferniani and Andrea Ballabio ()
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Irene Sambri: Telethon Institute of Genetics and Medicine (TIGEM)
Marco Ferniani: Baylor College of Medicine
Andrea Ballabio: Telethon Institute of Genetics and Medicine (TIGEM)

Nature Communications, 2024, vol. 15, issue 1, 1-10

Abstract: Abstract 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 phenotypes may encompass a variety of clinical features such as cataract, kidney tubulopathy, dilated cardiomyopathy and several types of cancer. In this review, we focus on the key clinical, molecular and physio-pathological features of ragopathies, aiming to shed light on their underlying mechanisms.

Date: 2024
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DOI: 10.1038/s41467-024-50034-4

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