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Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome [RNA-Seq]

GSE294381 Mus musculus Expression profiling by high throughput sequencing 8 samples Submitted 2025/10/03 Platform GPL24247
Summary
Mutations in human Argonaute genes, AGO1 and AGO2, are associated with neurodevelopmental disorders. Although multiple patients have been identified, the underlying molecular basis for pathogenesis remains unclear. Here, we performed an extensive investigation of five AGO2 mutations (p.L192P, p.A367P, p.T357M, p.F182del, and p.G733R) linked to different clinical severities.
Published in
Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome
Liu TM, Tibbe D, Engler JB et al. · Nucleic acids research 2025 · PMID 41099708 · doi:10.1093/nar/gkaf1002
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Also filed as BioProject PRJNA1249295 and SRA study SRP577927. Searching any of these in the dataset finder brings you back here.

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