Oliver's mTOR Atlas Evidence Platform
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A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome

Napolitano G, Ballabio A et al. · 2020 · Nature · Atlas ID NAP2020

What this study shows

A substrate-specific mTORC1-TFEB pathway (RagC/D-dependent) drives Birt-Hogg-Dube kidney disease.

Abstract

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The mechanistic target of rapamycin complex 1 (mTORC1) is a key metabolic hub that controls the cellular response to environmental cues by exerting its kinase activity on multiple substrates. However, whether mTORC1 responds to diverse stimuli by differentially phosphorylating specific substrates is poorly understood. Here we show that transcription factor EB (TFEB), a master regulator of lysosomal biogenesis and autophagy, is phosphorylated by mTORC1 via a substrate-specific mechanism that is mediated by Rag GTPases.

Read the full abstract on PubMed →

At a glance

Evidence type M Molecular — cells, biochemistry, structure Marked M because it is molecular or in-vitro work (model: Human cells; mouse) rather than a whole-organism health-outcome study. That is often exactly where causal biology gets established -- the code says which system the finding was shown in, and nothing about how good the work is.
Study type5 - Mechanistic / In Vitro
Model systemHuman cells; mouse
JournalNature
Year2020
Peer reviewedYes
Record last updated2026-08-22
SourceDOI 10.1038/s41586-020-2444-0 · PMID 32612235 · Free full text (PMC7610377)

Extracted findings

InterventionGenetic (FLCN / mTORC1)
TargetmTORC1 / TFEB / FLCN
ModelHuman cells; mouse
EffectA substrate-specific mTORC1 pathway phosphorylates TFEB and underlies Birt-Hogg-Dubé syndrome

Cite this paper

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Napolitano, G., et al. (2020). A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome. Nature. https://doi.org/10.1038/s41586-020-2444-0

@article{NAP2020,
  author       = {Napolitano, G. and Ballabio, A. and others},
  title        = {{A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome}},
  journal      = {Nature},
  year         = {2020},
  doi          = {10.1038/s41586-020-2444-0},
  note         = {PMID: 32612235},
}

Cite this Atlas record

The record is the Atlas's own work — the evidence label, the extracted findings and the links. It is cited as part of the dataset, not as the paper.

Barton, O. (2026). Oliver's mTOR Atlas (record NAP2020) [Data set]. https://mtor-atlas.org/study/NAP2020/ · Dataset DOI 10.5281/zenodo.22059963

@misc{atlas_NAP2020,
  author       = {Barton, Oliver},
  title        = {{Oliver's mTOR Atlas}, record NAP2020},
  howpublished = {Data set},
  year         = {2026},
  url          = {https://mtor-atlas.org/study/NAP2020/},
  doi          = {10.5281/zenodo.22059963}
}