REVIEW article
Front. Cell Dev. Biol.
Sec. Signaling
Volume 13 - 2025 | doi: 10.3389/fcell.2025.1595867
New Insights into Tuberous Sclerosis Complex: from Structure to Pathogenesis
Provisionally accepted
Chao-Sheng Chen
Christopher Herbert Stanley Aylett*- Imperial College London, London, United Kingdom
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Tuberous sclerosis complex is a genetic disorder characterised by the formation of benign tumours in multiple organs, primarily due to pathogenic variants in the TSC1 and TSC2 tumour suppressor genes. These genes encode hamartin and tuberin, respectively, which together with TBC1D7 form a crucial protein complex regulating cell growth and proliferation through mTOR signalling and other pathways. This review provides an overview of recent progress in understanding the molecular structure and function of this key protein complex, its role in cellular processes, pathogenesis, and current and future therapeutic strategies.
Keywords: gap, Hamartin, mTORC1, rapamycin, rheb, TBC1D7, TSC, Tuberin
Received: 18 Mar 2025; Accepted: 13 Jun 2025.
Copyright: © 2025 Chen and Aylett. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Christopher Herbert Stanley Aylett, Imperial College London, London, United Kingdom
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