Article
Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome.
Nucleic acids research - 14 Oct 2025
Liu TingYu M, Tibbe Debora, Engler Jan Broder, Hermans-Borgmeyer Irm, Borgmeyer Uwe, de Maruri Kerstin Robles, Lessel Davor, MacRae Ian J, Kreienkamp Hans-Jürgen
Abstract excerpt
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 biochemically examined five AGO2 mutations (p.L192P, p.A367P, p.T357M, p.F182del, and p.G733R) linked to different clinical severities. Except for G733R, all AGO2 mutant proteins maintained a...
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