Open access
Aug 2026
Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.
Structural assessment using AlphaFold2-based AGO1 models and the AGO2 crystal structure confirmed positional equivalence of the affected residues, supporting the concept of a shared structural vulnerability across Argonaute paralogs and highlighting RNA-regulatory dysfunction as a coherent pathogenic axis.
Munetsugu Hara, Nobuhiko Okamoto, Yukihiro Kitai et al.
· Clinical Genetics · 0 citations