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Updated: Jul 24, 2025

Inner Mitochondrial Membrane Sensitivity to Na+ Reveals Partially Segmented Functional CoQ Pools
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与COQ7相关的初级CoQ10缺乏症的表型,分子和功能特征:低形变体和两个不同的疾病实体

Parith Wongkittichote1, Maria Laura Duque Lasio2, Martina Magistrati3

  • 1Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Molecular genetics and metabolism
|July 1, 2023
PubMed
概括

主要的辅酶Q10 (CoQ10) 缺乏由于COQ7基因变异呈现出不同的新生儿和晚期发病形式. 用2,4-二基酸治疗对这些罕见的代谢障碍有希望.

关键词:
功能性研究是一项功能性研究.遗传神经病变是一种遗传性神经病变.线粒体障碍 线粒体障碍主要的 CoQ10 缺乏症.酵母模型的酵母模型

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