脱氧基氨酸合成酶突变改变了5A真核细胞启动因子的翻译后修饰,导致人类和小鼠神经平衡受损

Leah R Padgett1, Mollie R Shinkle2, Spencer Rosario3

  • 1Indiana Biosciences Research Institute, Indianapolis, IN 46202, USA.

HGG advances
|June 19, 2023
PubMed
概括

脱氧基氨酸合成酶 (DHPS) 缺乏通过破坏mRNA翻译来损害大脑发育. 这项研究揭示了DHPS变异如何影响eIF5A修饰,影响神经元功能,并可能导致发育障碍.

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