Evidence mapPaperPMID 39334956Full record

ReviewBiomolecules2024

Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets.

Elena Conte, Brigida Boccanegra, Giorgia Dinoi, Michael Pusch, Annamaria De Luca, Antonella Liantonio, Paola Imbrici

Abstract readReview
In one paragraph

Review in Biomolecules, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Review
  6. Article
  7. A child with tuberous sclerosis having Novel NRAS gene mutation.Journal of family medicine and primary care · 2025
    Article
  8. Article
  9. Review
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

7 authors.

Elena ConteDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0001-8571-5125
Brigida BoccanegraDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0002-1078-8490
Giorgia DinoiDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.
Michael PuschInstitute of Biophysics, National Research Council, 16149 Genova, Italy.ORCID 0000-0002-8644-8847
Annamaria De LucaDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0002-5652-7341
Antonella LiantonioDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.
Paola ImbriciDepartment of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", 70125 Bari, Italy.ORCID 0000-0001-9140-5350

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 encoding the tuberin and hamartin proteins, respectively. Both TSC1 and TSC2 inhibit the mammalian target of rapamycin (mTOR) complexes pathway, which is crucial for cell proliferation, growth, and differentiation, and is stimulated by various energy sources and hormonal signaling pathways. Pathogenic variants in TSC1 and TSC2 lead to mTORC1 hyperactivation, producing benign tumours in multiple organs, including the brain and kidneys, and drug-resistant epilepsy, a typical sign of TSC. Brain tumours, sudden unexpected death from epilepsy, and respiratory conditions are the three leading causes of morbidity and mortality. Even though several therapeutic options are available for the treatment of TSC, there is further need for a better understanding of the pathophysiological basis of the neurologic and other manifestations seen in TSC, and for novel therapeutic approaches. This review provides an overview of the main current therapies for TSC and discusses recent studies highlighting the repurposing of approved drugs and the emerging role of novel targets for future drug design.

Indexed as

Tuberous SclerosisTuberous Sclerosis Complex 1 ProteinAnimalsHumansMolecular Targeted TherapySignal TransductionTOR Serine-Threonine KinasesTuberous Sclerosis Complex 2 ProteinMTOR protein, humanTOR Serine-Threonine KinasesTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinCLC-5everolimusKv1.1mTORtuberous sclerosis complexvigabatrin

Identifiers

PMID39334956
PMCPMC11429992

What Socratic holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.