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Updated: Sep 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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Published on: December 1, 2017

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YWHAG遺伝子の変異が発達性および性脳症における役割

Violet Vilmont1, Richard S Nowakowski1, Yi Zhou1

  • 1Department of Biomedical Sciences, Florida State University College of Medicine, Tallahassee, FL, United States.

Frontiers in neuroscience
|September 2, 2025
PubMed
まとめ

YWHAG遺伝子の変異は 発育性および性脳症 (DEE) を引き起こし,重度の神経疾患である. 14-3-3γタンパク質の機能障害を理解することで,と発達障害の治療に関する洞察が得られます.

キーワード:
14-3-3タンパク質ファミリー14-3-3γタンパク質DEE についてYWHAG変異発育性および性脳症エピレプシーニューロンの過興奮発作する

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