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Updated: Jul 22, 2025

Xenopus laevis as a Model to Identify Translation Impairment
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与EIF4A2相关的dystonia 哈普隆缺乏症:蛋白质翻译功能障碍的障碍

Philip Harrer1,2, Matej Škorvánek3,4, Volker Kittke1,2

  • 1Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.

Movement disorders : official journal of the Movement Disorder Society
|July 24, 2023
PubMed
概括

在EIF4A2中的遗传变异会导致一种新的主导性 dystonia-tremor 综合征. 这一发现将翻译性放松调节与神经发育和晚期发作的反性疾病联系在一起,突出显示EIF4A2的哈普洛缺陷是关键因素.

关键词:
欧洲金融基金4A2迪斯托尼亚 (Dystonia) 是一种精神疾病.功能丧失的变种.翻译功能障碍是指翻译功能障碍.,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,

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