结节性硬化症复合体的新见解：从结构到发病机制。

IF 4.6 2区生物学 Q2 CELL BIOLOGY

Frontiers in Cell and Developmental Biology Pub Date : 2025-06-27 eCollection Date: 2025-01-01 DOI:10.3389/fcell.2025.1595867

Chao-Sheng Chen, Christopher H S Aylett

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引用次数: 0

摘要

结节性硬化症是一种遗传性疾病，其特征是在多个器官中形成良性肿瘤，主要是由于TSC1和TSC2肿瘤抑制基因的致病变异。这些基因分别编码错构体和tuberin，它们与TBC1D7一起形成一个重要的蛋白复合物，通过mTOR信号传导和其他途径调节细胞生长和增殖。本文综述了该关键蛋白复合物的分子结构和功能、其在细胞过程中的作用、发病机制以及当前和未来的治疗策略等方面的最新进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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New insights into tuberous sclerosis complex: from structure to pathogenesis.

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.

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来源期刊

Frontiers in Cell and Developmental Biology Biochemistry, Genetics and Molecular Biology-Cell Biology

CiteScore

9.70

自引率

3.60%

发文量

2531

审稿时长

12 weeks

期刊介绍： Frontiers in Cell and Developmental Biology is a broad-scope, interdisciplinary open-access journal, focusing on the fundamental processes of life, led by Prof Amanda Fisher and supported by a geographically diverse, high-quality editorial board. The journal welcomes submissions on a wide spectrum of cell and developmental biology, covering intracellular and extracellular dynamics, with sections focusing on signaling, adhesion, migration, cell death and survival and membrane trafficking. Additionally, the journal offers sections dedicated to the cutting edge of fundamental and translational research in molecular medicine and stem cell biology. With a collaborative, rigorous and transparent peer-review, the journal produces the highest scientific quality in both fundamental and applied research, and advanced article level metrics measure the real-time impact and influence of each publication.