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Ragopathies and the rising influence of RagGTPases on human diseases

Author

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  • Irene Sambri

    (Telethon Institute of Genetics and Medicine (TIGEM)
    Genomics and Experimental Medicine Program (GEM))

  • Marco Ferniani

    (Baylor College of Medicine
    Texas Children’s Hospital)

  • Andrea Ballabio

    (Telethon Institute of Genetics and Medicine (TIGEM)
    Baylor College of Medicine
    Texas Children’s Hospital
    Federico II University)

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.

Suggested Citation

  • Irene Sambri & Marco Ferniani & Andrea Ballabio, 2024. "Ragopathies and the rising influence of RagGTPases on human diseases," Nature Communications, Nature, vol. 15(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:15:y:2024:i:1:d:10.1038_s41467-024-50034-4
    DOI: 10.1038/s41467-024-50034-4
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