Jove
Visualize
联系我们

相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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

Clu1/Clu form mitochondria-associated granules upon metabolic transitions and regulate mitochondrial protein translation via ribosome interactions.

PLoS genetics·2025
Same author

Activation of the Keap1/Nrf2 pathway suppresses mitochondrial dysfunction, oxidative stress, and motor phenotypes in <i>C9orf72</i> ALS/FTD models.

Life science alliance·2024
Same author

Mitochondrial CISD1/Cisd accumulation blocks mitophagy and genetic or pharmacological inhibition rescues neurodegenerative phenotypes in Pink1/parkin models.

Molecular neurodegeneration·2024
Same author

N-terminal acetylation shields proteins from degradation and promotes age-dependent motility and longevity.

Nature communications·2023
Same author

FBXO7/ntc and USP30 antagonistically set the ubiquitination threshold for basal mitophagy and provide a target for Pink1 phosphorylation in vivo.

PLoS biology·2023
Same author

USP8 Down-Regulation Promotes Parkin-Independent Mitophagy in the <i>Drosophila</i> Brain and in Human Neurons.

Cells·2023
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 9, 2026

A Simple One-step Dissection Protocol for Whole-mount Preparation of Adult Drosophila Brains
09:53

A Simple One-step Dissection Protocol for Whole-mount Preparation of Adult Drosophila Brains

Published on: December 1, 2016

29.1K

从Drosophila模型对PINK1/Parkin功能和功能障碍的洞察力

Seoyoung Park1, Nikita Kozhushko, Thomas H Wight

  • 1MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, CB2 0XY, U.K.

The Biochemical journal
|December 24, 2025
PubMed
概括

在PINK1和帕金 (PRKN) 中的功能丧失突变导致帕金森病 (PD). 果虫模型揭示了保存的功能和疾病机制,包括免疫信号,肠道完整性和线粒体处理,告知PD的病原性.

关键词:
这种植物是Drosophila.标签:PINK1PINK1PINK1PINK1停车场可以停车.帕金森病是帕金森氏症的一种疾病.自自是自的过程.的信号传递.免疫信号传递是免疫信号的重要组成部分.线粒体中的线粒体.线粒细胞衰变 (mitophagy) 是一种神经衰变的过程.我们的mtDNA mtDNA神经退行症的神经退行症

更多相关视频

Visualizing Synaptic Degeneration in Adult Drosophila in Association with Neurodegeneration
06:10

Visualizing Synaptic Degeneration in Adult Drosophila in Association with Neurodegeneration

Published on: May 13, 2020

6.7K
Author Spotlight: Exploring Mitochondrial Function and Chemical Toxicity Using Drosophila melanogaster
09:20

Author Spotlight: Exploring Mitochondrial Function and Chemical Toxicity Using Drosophila melanogaster

Published on: November 10, 2023

1.4K

相关实验视频

Last Updated: Jun 9, 2026

A Simple One-step Dissection Protocol for Whole-mount Preparation of Adult Drosophila Brains
09:53

A Simple One-step Dissection Protocol for Whole-mount Preparation of Adult Drosophila Brains

Published on: December 1, 2016

29.1K
Visualizing Synaptic Degeneration in Adult Drosophila in Association with Neurodegeneration
06:10

Visualizing Synaptic Degeneration in Adult Drosophila in Association with Neurodegeneration

Published on: May 13, 2020

6.7K
Author Spotlight: Exploring Mitochondrial Function and Chemical Toxicity Using Drosophila melanogaster
09:20

Author Spotlight: Exploring Mitochondrial Function and Chemical Toxicity Using Drosophila melanogaster

Published on: November 10, 2023

1.4K

科学领域:

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

背景情况:

  • 在PINK1和帕金 (PRKN) 中的功能丧失突变与家族性帕金森病 (PD) 有关.
  • 在体外研究强调了它们在线粒体的作用,即受损线粒体的选择性降解.
  • 在体内检测对于理解整个生物体的PINK1/Parkin功能至关重要.

研究的目的:

  • 审查Drosophila中Pink1/Parkin介导的线粒体周转的证据.
  • 讨论草虫研究对帕金森病病原发生的含义.
  • 评估Drosophila作为询问Pink1和parkin函数的模型的实用性.

主要方法:

  • 使用Drosophila作为一个遗传模型生物体.
  • 分析Pink1和帕金金骨科的零突变产生的表型.
  • 审查关于Pink1/Parkin功能和PD病变的现有文献.

主要成果:

  • 果虫模型表现出来自Pink1/Parkin功能丧失突变的强壮表型.
  • 在人类中已经确定了Pink1和Parkin的保存功能.
  • 关键主题包括异常的免疫信号,肠道完整性的破坏和改变的线粒体处理.

结论:

  • 草提供了一个强大的,基因可处理的模型,用于研究Pink1/Parkin功能在体内.
  • 在Drosophila的发现提供了关于人类PD相关的神经退行过程的见解.
  • 进一步对Drosophila的研究可以快速测试假设,并告知PD的病变发生.