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Updated: Jul 25, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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转录组分析揭示了新型化合物异合体ACO2变体的分子机制,导致婴儿小脑视网膜退化

Wenke Yang1,2, Shuyue Wang1,3, Ke Yang1

  • 1Henan Provincial People's Hospital, People's Hospital of Henan University, People's Hospital of Zhengzhou University, Zhengzhou, China.

Frontiers in cellular neuroscience
|November 27, 2024
PubMed
概括

这项研究在患有婴儿大脑小视网膜退行症 (ICRD) 的患者中发现了新的ACO2基因变异,揭示了ACO2缺乏引起的神经病变的分子机制,并扩大了对ICRD病变的理解.

关键词:
这是ACO2的二氧化碳.婴儿小脑视网膜退行症线粒体中氨基酸酶的活性.神经病变是一种神经病变.变种 变种 变种 变种 变种

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相关概念视频

Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life