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Updated: May 17, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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这种MFN2 Q367H变体揭示了一种与mtDNA介导的炎症相关的新型病理机制

Mashiat Zaman1, Govinda Sharma2, Walaa Almutawa2

  • 1Department of Biochemistry & Molecular Biology, Cumming School of Medicine, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada.

Life science alliance
|April 2, 2025
PubMed
概括

一种新型的MFN2基因变异Q367H,通过损害线粒体功能并通过TLR9和cGAS-STING通路引发mtDNA介导的炎症,导致没有神经病变的晚发性肌肉病变.

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