Jove
Visualize
联系我们

相关概念视频

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

79
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
79

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序
Same author

Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring <i>CEP152</i> Variants.

Cells·2026
Same author

A hypofunctional PREX1 variant (p.Y191C) leads to neurodevelopmental abnormalities and epilepsy by attenuating RAC1 signaling.

Scientific reports·2026
Same author

Correction: A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation.

The Journal of biological chemistry·2026
Same author

Urbanization rivals regional climate as an evolutionary driver of white clover.

Oecologia·2026
Same author

Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.

EMBO molecular medicine·2026
Same author

Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy.

Acta neuropathologica communications·2026
JoVE
x logofacebook logolinkedin logoyoutube logo
关于 JoVE
概览领导团队博客JoVE 帮助中心
作者
出版流程编辑委员会范围与政策同行评审常见问题投稿
图书馆员
用户评价订阅访问资源图书馆顾问委员会常见问题
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关实验视频

Updated: Jun 19, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

与神经发育障碍相关的变异会影响ARF1功能和皮质发育.

Tomoki Ishiguro1, Mariko Noda1, Masashi Nishikawa1,2

  • 1Department of Molecular Neurobiology, Institute for Developmental Research, Aichi Developmental Disability Center, 713-8 Kamiya, Kasugai, Aichi 480-0392, Japan.

Journal of biochemistry
|July 25, 2024
PubMed
概括

与神经发育障碍相关的特定ADP-ribosylation factor 1 (ARF1) 变体破坏了戈尔吉器官的结构和功能,导致小鼠的皮质神经元迁移缺陷.

关键词:
在ARF1中,ARF1是ARF1.戈尔吉仪器是一台高尔基仪器.大脑大脑大脑的大脑大脑神经发育障碍是一种神经发育障碍.小型的GTP酶.

更多相关视频

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.3K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

相关实验视频

Last Updated: Jun 19, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K
Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders
07:43

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

11.3K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

科学领域:

  • 细胞生物学 细胞生物学
  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.

背景情况:

  • ADP-ribosylation因子 (ARFs) 是小的GTPases,对囊泡贩运和actin动态至关重要.
  • 遗传研究将ARF基因变异与神经发育障碍联系起来,但潜在的机制尚不清楚.

研究的目的:

  • 研究与神经发育障碍相关的ARF1变异的功能影响.
  • 阐明这些变异在神经元发育中的病理生理作用.

主要方法:

  • 对ARF1变种进行了生物化学测试 (GDP/GTP交换,GTP酶活性).
  • 细胞生物学研究涉及哺乳动物细胞的短暂表达,以评估戈尔吉装置结构.
  • 在体内分析用于小鼠的子宫电穿孔,以研究皮质神经元迁移.

主要成果:

  • 几种ARF1变种 (p.R19C, -p.F51L, -p.R99C, -p.R99H) 显示了GDP/GTP交换活动的变化.
  • ARF1变种p.R99C, -p.R99H和 -p.K127E破坏了哺乳动物细胞中的戈尔吉器官结构.
  • 这些变异导致皮质神经元迁移缺陷和Golgi扩张在胚胎小鼠.

结论:

  • 与神经发育障碍相关的ARF1变异可能会损害戈尔吉器官的完整性.
  • 由于ARF1变异导致戈尔吉结构的破坏,导致皮质神经元的发育缺陷,特别影响迁移.