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Updated: Jan 9, 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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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

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与神经发育障碍相关的IMPDH2变体破坏了 purin 生物合成和 somite 组织

Audrey G O'Neill1, Morgan E McCartney1, Gavin M Wheeler1

  • 1Department of Biochemistry, University of Washington School of Medicine, Seattle, WA 98195.

Proceedings of the National Academy of Sciences of the United States of America
|December 4, 2025
PubMed
概括

在IMP脱酶2 (IMPDH2) 中的功能获取突变导致神经发育障碍. 这项研究表明,一种特定的IMPDH2突变物通过影响丝组装来破坏的蛋白质代谢和的感觉运动发育.

关键词:
艾洛斯特菌是所有菌的低温电磁波冷却器 (Cryo-EM) 是一个非常好的方法.酶纤维 酶纤维神经肌肉发育的发展.核酸生物合成的核酸生物合成

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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