Article

Loss of <i>MEF2C</i> function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice

2024-07-17

Abstract excerpt

Genetic changes and epigenetic modifications are associated with neuronal dysfunction in the pathogenesis of neurodegenerative disorders. However, the mechanism behind genetic mutations in the non-coding region of genes that affect epigenetic modifications remains unclear. Here, we identified an ALS-associated SNP located in the intronic region of MEF2C (rs304152), residing in a putative enhancer element, using c...

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Literature Corpus work: 0027e098-e38c-5b36-bbde-5c1176ff3a12
DOI: 10.1101/2024.07.15.603186

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