相关实验视频
Updated: Jul 2, 2025

07:44
Evaluation of Synapse Density in Hippocampal Rodent Brain Slices
Published on: October 6, 2017
17.1K
在发育过程中KDM5C对WNT信号的控制会影响认知
Violetta Karwacki-Neisius1, Ahram Jang2,3, Engin Cukuroglu4
1Division of Newborn Medicine and Epigenetics Program, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. violetta.karwacki-neisius@childrens.harvard.edu.
Nature
|February 21, 2024
概括
KDM5C基因突变通过破坏神经发育时间导致智力障碍. 在发育过程中暂时恢复WNT信号可以纠正细胞变化并挽救认知缺陷.
科学领域:
- 神经科学
- 遗传学
- 发育生物学
背景情况:
- 在X相关智力障碍中,KDM5C突变很常见,但其潜在机制尚不清楚.
- 了解KDM5C的作用对于解决认知障碍至关重要.
研究的目的:
- 阐明KDM5C在神经发育中的功能及其与智力障碍的联系.
- 研究KDM5C突变导致认知障碍的分子机制.
主要方法:
- 使用来自患者的诱导多能干细胞和Kdm5c淘汰小鼠模型.
- 进行细胞,转录,染色体和行为分析.
- 研究了WNT信号通路调节的作用.
主要成果:
- 确定KDM5C是神经发育时间的关键调节者.
- 在特定的发展窗口中证明KDM5C对WNT输出的直接控制.
- 表明短暂的WNT通路调节可以拯救与KDM5C干扰相关的细胞和行为缺陷.
结论:
- KDM5C是神经发育时间的保障, 而其破坏会导致智力障碍.
- 暂时的WNT信号调制为KDM5C相关的智力障碍提供了潜在的治疗策略.
- 在影响记忆和焦虑等长期认知功能方面.
相关概念视频
Non-Canonical Wnt Signaling Pathways
7.3K
Wnt is a zygotic effect gene that is expressed during very early embryonic development. It regulates various processes in animals starting from early development through the adult stage, such as organogenesis in the embryo and maintenance of neuronal and blood stem cells. Wnt proteins can induce a wide variety of intracellular pathways depending upon the specific abilities of different Wnt ligands to form a complex with shared and cognate receptors in the presence of different co-receptors. The...
7.3K
Canonical Wnt Signaling Pathway
8.8K
The gene encoding the main signaling molecules of the Wnt signaling pathways (the Wnt proteins) was discovered almost four decades ago by Nüsslein-Volhard and Wieschaus. They identified and originally named the gene "wingless" (wg) after a phenotype discovered during their landmark genetic screen in Drosophila for body pattern defects. At around the same time, another researcher named Harold Varmus found that a murine tumor virus activates the mammalian wg homolog, Int-1, which...
8.8K
Notch Signaling Pathway
4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
Cadherins in Tissue Organization
3.0K
The cadherins are a superfamily of cell adhesion molecules comprising over 180 variants, with specific tissues expressing a particular combination of cadherin types. Cadherins generally exhibit homophilic binding; i.e., cadherins on one cell bind to cadherins of the same or closely related type on another cell. Thus, cells of the same type have a specific affinity to bind to each other and sort themselves into clusters to form tissues.
Cell Sorting During Development
Cell sorting plays an...
Cell Sorting During Development
Cell sorting plays an...
3.0K
Determination
18.5K
During embryogenesis, cells become progressively committed to different fates through a two-step process: specification followed by determination. Specification is demonstrated by removing a segment of an early embryo, “neutrally” culturing the tissue in vitro—for example, in a petri dish with simple medium—and then observing the derivatives. If the cultured region gives rise to cell types that it would normally generate in the embryo, this means that it is specified. In...
18.5K
Hedgehog Signaling Pathway
7.4K
The Hedgehog gene (Hh) was first discovered due to its control of the growth of disorganized, hair-like bristles phenotype in Drosophila, much like hedgehog spines. Hh plays a crucial role in the development of organs and the maintenance of homeostasis in both invertebrates and vertebrates. However, while Drosophila has only one Hh protein, mammals have multiple functional Hedgehog proteins - Sonic (Shh), Desert (Dhh), and Indian Hedgehog (Ihh). All of these homologous proteins have adapted to...
7.4K

