相关实验视频

Updated: Mar 11, 2026

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on: October 19, 2021

与相关的FOXJ3变体将PTEN-mTOR途径的转录程序与神经元规范和皮质层层化联系起来

Haw-Yuan Cheng^1,2, Chen Liu¹, Chiao-Wen Nien¹

¹Institute of Brain Science, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.

Nature communications

|March 10, 2026

概括

通过破坏神经元发育,FOXJ3中的致病变体会导致焦点和焦点皮质发育不良 (FCD). 福克斯J3调节PTEN-mTOR信号传递,这对正确的大脑结构至关重要.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
发展生物学发展生物学

背景情况:

焦点皮层发育不良 (FCD) 是抗药性的主要原因.
FCD的分子基础,包括异常的神经元迁移和皮质发育,尚未完全理解.

研究的目的:

确定自体主导焦点和FCD的遗传基础.
研究FOXJ3在神经元发育和皮质层层形成中的作用.

主要方法:

在焦点和FCD患者中鉴定了FOXJ3变异.
在小鼠模型中使用子宫内电穿孔来研究Foxj3功能.
执行了ChIP-seq和scRNA-seq以识别FOXJ3目标.
研究了PTEN-mTOR路径.

主要成果:

在焦点和FCD患者中发现了FOXJ3致病变体.
在小鼠中,Foxj3的淘汰导致神经元迁移受损,皮质层层被破坏,神经元规格发生变化.
Pten被确定为直接的FOXJ3目标基因.
缺少FOXJ3导致PTEN-mTOR信号失调和神经元 soma扩大,这是FCD的特征.

结论:

在FOXJ3中发生的突变与引起和FCD有关.
FOXJ3在调节神经元发育和皮质组织的PTEN-mTOR信号传递方面发挥着关键作用.

更多相关视频

Pentylenetetrazole-Induced Kindling Mouse Model

Pentylenetetrazole-Induced Kindling Mouse Model

Published on: June 12, 2018

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models

Published on: January 12, 2015

相关概念视频

Epilepsy and Seizures: Overview

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...

PI3K/mTOR/AKT Signaling Pathway

PI3K/mTOR/AKT Signaling Pathway

The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that regulates growth, proliferation, and cell survival in response to hormones, growth factors, or nutrient availability. This kinase exists in two structurally and functionally distinct forms: mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2). The first form (mTORC1) is composed of a rapamycin-sensitive Raptor and proline-rich Akt substrate, PRAS40. In contrast, mTORC2 consists of a...