New insights into tuberous sclerosis complex: from structure to pathogenesis
File(s)
Published version
Author(s)
Chen, Chao-Sheng
Aylett, Christopher
Type
Journal Article
Abstract
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
Date Issued
2025-06-27
Date Acceptance
2025-06-13
Citation
Frontiers in Cell and Developmental Biology, 2025, 13
ISSN
2296-634X
Publisher
Frontiers Media S.A.
Journal / Book Title
Frontiers in Cell and Developmental Biology
Volume
13
Copyright Statement
© 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) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. Nouse, distribution or reproduction is permitted which does not comply with these terms.
License URL
Publication Status
Published
Article Number
1595867
Date Publish Online
2025-06-27