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RNase H1 counteracts DNA damage and ameliorates SMN-dependent phenotypes in a <i>Drosophila</i> model of Spinal Muscular Atrophy

2025-04-19

Abstract excerpt

<h4>ABSTRACT</h4> Spinal Muscular Atrophy (SMA) is caused by a deficiency of the Survival Motor Neuron (SMN) protein. Mutations in SMN disrupt mRNA splicing and translation, leading to maladaptive changes in transcriptomes, proteomes, neuroinflammation, and metabolism, which drive motor neuron degeneration in SMA patients. Using a Drosophila SMA model, we found that systemic depletion of Smn leads to accumulatio...

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Literature Corpus work
7fb3f988-0f30-5cd9-9e35-1c50c556bbf5
DOI
10.1101/2025.04.17.649348
Open publication

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RNase H1 counteracts DNA damage and ameliorates SMN-dependent phenotypes in a <i>Drosophila</i> model of Spinal Muscular AtrophyDOI 10.1101/2025.04.17.649348
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