Modeling neurodevelopmental disorder-associated human mutations in Argonaute .

MicroRNAs (miRNA) associate with Argonaute (AGO) proteins and repress gene expression by base pairing to sequences in the 3' untranslated regions of target genes. De novo coding variants in the human AGO genes and cause neurodevelopmental disorders (NDD) with intellectual disability, referred to as Argonaute syndromes. Most of the altered amino acids are conserved between the miRNA-associated AGO in and , suggesting that the human mutations could disrupt conserved functions in miRNA biogenesis or activity.

Modeling neurodevelopmental disorder-associated mutations in Argonaute .

MicroRNAs (miRNA) are endogenous non-coding RNAs important for post-transcriptional regulation of gene expression. miRNAs associate with Argonaute proteins to bind to the 3' UTR of target genes and confer target repression. Recently, multiple coding variants in the human Argonaute gene ( ) have been reported to cause a neurodevelopmental disorder (NDD) with intellectual disability (ID).