Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. In this review, we provide an update on the progress regarding our understanding of TCF4 function at the molecular, cellular, physiological, and behavioral levels with a focus on phenotypes and therapeutic interventions. We examine upstream and downstream regulatory networks associated with TCF4 and discuss a range of in vitro and in vivo data with the aim of understanding emerging TCF4-specific mechanisms relevant for disease pathophysiology. In conclusion, we provide comments about exciting future avenues of research that may provide insights into potential new therapeutic targets for PTHS.
Dev Neurosci

中文翻译：

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Pitt-Hopkins 综合征中转录因子 4 的分子和细胞功能

转录因子 4（TCF4，也称为 ITF2 或 E2-2）是一种 I 型碱性螺旋-环-螺旋转录因子。TCF4 的常染色体显性突变导致 Pitt-Hopkins 综合征 (PTHS)，这是一种罕见的自闭症谱系障碍综合征形式。在这篇综述中，我们提供了关于我们在分子、细胞、生理和行为水平上理解 TCF4 功能的最新进展，重点是表型和治疗干预。我们检查了与 TCF4 相关的上游和下游监管网络，并讨论了一系列体外和体内数据，目的是了解与疾病病理生理学相关的新兴 TCF4 特异性机制。总之，我们提供了关于令人兴奋的未来研究途径的评论，这些途径可能为 PTHS 潜在的新治疗靶点提供见解。
开发神经科学