Evidence map›Paper›PMID 38987251›Full record

ReviewNature communications2024

Ragopathies and the rising influence of RagGTPases on human diseases.

Irene Sambri, Marco Ferniani, Andrea Ballabio

Abstract readReview
In one paragraph

Review in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Hyperactivation of mTORC1 by an endogenousmicroPublication biology · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Irene Sambri *Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, (NA), Italy.ORCID 0000-0003-3500-6958
Marco Ferniani *Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID 0000-0002-8244-3731
Andrea BallabioTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, (NA), Italy. ballabio@tigem.it.ORCID 0000-0003-1381-4604

Funding

Dissecting and targeting lysosomal signaling in kidney tumorigenesisR01CA260205 · NCI · UNIVERSITY OF CALIFORNIA BERKELEY · PI ANDREA BALLABIO, Roberto Zoncu · 2022 to 2026
$2.7M
Associazione Italiana per la Ricerca sul Cancro (Italian Association for Cancer Research) IG-22103EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council) LYSOSOMICS 694282Ministero dell'Istruzione, dell'Università e della Ricerca (Ministry of Education, University and Research) PRIN 202032AZT3NCI NIH HHS R01 CA260205
6 · The paper itself

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.

Indexed as

MutationAnimalsBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsCardiomyopathy, DilatedCataractHumansMechanistic Target of Rapamycin Complex 1NeoplasmsBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsMechanistic Target of Rapamycin Complex 1

Identifiers

PMID38987251
PMCPMC11237164

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.