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Updated: Sep 15, 2025

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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一种与神经发育障碍相关的IMPDH2变体破坏了 purin 生物合成和 somitogenesis

Audrey G O'Neill1, Morgan E McCartney1,2, Gavin M Wheeler1

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

bioRxiv : the preprint server for biology
|July 14, 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,一种特定的突变物通过影响IMPDH线索组装和全ostery来破坏纯素代谢和子发育.

关键词:
在IMP脱水酶中,IMP脱水酶主要分类:生物科学 生物科学较小的分类:生物化学和发育生物学.亚洛斯特菌是什么意思?低温电磁波冷却器 (Cryo-EM) 是一个非常好的方法.迪斯托尼亚 (Dystonia) 是一种精神疾病.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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