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Updated: Jun 22, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
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突变的sigma-1R破坏了dHMN患者细胞中的细胞平衡

Sofia Zanin1, Francesco Ciscato2,3, Antonio Petrucci4

  • 1Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Institut Imagine, Université de Paris, Paris, France.

Cellular and molecular life sciences : CMLS
|April 9, 2025
PubMed
概括

在sigma-1受体 (Sigma-1R) 的功能丧失突变导致遗传性运动神经病变. 患者的细胞表现出受损的平衡,突出显示了Sigma-1RR.

关键词:
在Ca2+信号传输中.细胞蛋白质稳定性细胞蛋白质稳定性线粒体与ER的接触是线粒体的接触.遗传性神经病变是一种遗传性神经病变.西格玛-1RR公司

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