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Updated: Jan 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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由拼接缺陷引起的ATP6AP2相关疾病:异常的糖化和第一个受影响的女性

Alexandre Raynor1,2, Jean-Madeleine de Sainte-Agathe3, Merel A Post4

  • 1AP-HP, Biochimie métabolique et Cellulaire, Hôpital Bichat, Paris, France.

Journal of inherited metabolic disease
|October 24, 2025
PubMed
概括

ATP6AP2拼接变体会导致神经障碍和异常的糖化. 这项研究将这些情况联系起来,表明糖化缺陷是ATP6AP2相关疾病的关键,来自拼接错误.

关键词:
在 ATP6AP2 中,这是CDG的CDG.戈尔吉V-ATPasease 时间表MRXSHSH MRXSH 在线观看这是一个XPDSXPDSXPDS.

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