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Updated: Sep 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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主导的负ATP5F1A变体破坏氧化酸化,导致神经疾病

Sara M Fielder1, Marisa W Friederich2,3, Daniella H Hock4,5,6

  • 1Department of Pediatrics, Division of Newborn Medicine, Washington University in St Louis School of Medicine, St. Louis, MO, 63110, USA.

EMBO molecular medicine
|August 26, 2025
PubMed
概括

新的ATP5F1A基因变异导致线粒体复合体V缺乏,导致发育障碍. 这扩大了对这些遗传条件的理解,并确定ATP5F1A是复杂V缺乏症的常见原因.

关键词:
酸合成酶ATP5F1A 时间复合体V线粒体病变氧化化

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