在C9ORF72中线粒体DNA突变的起源和细胞类型特异性ALS-FTLD人类大脑器官

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Updated: May 23, 2025

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

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Yu Nie1,2, Kornélia Szebényi1, Lea M D Wenger1

  • 1Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.

Science advances
|March 7, 2025
PubMed
概括

在C9ORF72基因突变增加了脑细胞中的线粒体DNA突变,导致星质的功能障碍. 这项研究使用脑器官来调查ALS-FTLD中这些突变的起源.

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