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Cellular Pathways and Cytokine Networks in Tuberous Sclerosis: Mechanisms and Therapeutic Targets

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: 30 August 2025 | Viewed by 33

Special Issue Editor


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Guest Editor
Center for Molecular Pulmonary Disease, Center for LAM and Rare Lung Disease, Departments of Anesthesiology and Physiology and Cellular Biophysics, College of Physicians and Surgeons, Columbia University Medical Center, 630 West 168th Street, New York, NY 10552, USA
Interests: tuberous sclerosis
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Special Issue Information

Dear Colleagues,

Tuberous Sclerosis Complex (TSC), affecting 1 in 6000 individuals, is driven by TSC1/2 mutations that hyperactivate mTOR signaling, leading to systemic tumors and neuropsychiatric sequelae. While mTOR inhibitors provide cytostatic relief, recurrence remains a challenge. This Special Issue, “Cellular Pathways and Cytokine Networks in Tuberous Sclerosis: Mechanisms and Therapeutic Targets”, seeks to advance molecular insights into TSC pathogenesis, emphasizing:

  1. mTOR-cytokine crosstalk in tumorigenesis and neurodevelopmental deficits.
  2. Epigenetic/metabolic reprogramming in TSC-associated lesions.
  3. Developmental signaling axes (e.g., Wnt, Notch) and neural crest contributions to AMLs/LAM (Unachukwu et al., iScience 2021).
  4. Neuronal cytoskeletal dynamics and synaptic plasticity defects.
  5. Molecular biomarkers of mTOR hyperactivity and single-cell omics applications.

Your expertise in molecular oncology, signaling biology, or omics approaches positions you as an ideal contributor. We encourage submissions employing the following:

  1. Lineage tracing or spatial transcriptomics to resolve cellular heterogeneity.
  2. High-throughput screens for novel therapeutic targets.
  3. Mechanistic models of TSC1/TSC2 interactome dynamics and downstream mTORC1/2 signaling dysregulation.
  4. Novel Focus: Integrates naturopathy research with developmental biology.
  5. Translational Relevance: Aligns with NIH/NINDS priority areas.

This issue will bridge molecular pathophysiology and clinical innovation. We eagerly await your transformative contributions.

Dr. Uchenna John Unachukwu
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • mTOR signaling dysregulation
  • neurocristopathy
  • cytokine crosstalk
  • TSC1/TSC2 complex
  • epigenetic modifiers
  • metabolic reprogramming
  • molecular biomarkers
  • spatial transcriptomics

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Published Papers

This special issue is now open for submission.
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