Publications by authors named "Ilaria Mannucci"
Article Synopsis
- The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
- Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
- Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.
Article Synopsis
- ARGONAUTE-2 (AGO2) and its associated miRNAs form the RNA-induced silencing complex (RISC), which is vital for controlling mRNA translation and degradation in the RNA interference pathway.
- Researchers discovered 13 mutations in the AGO2 gene among 21 patients with neurological development issues, leading to a breakdown in shRNA-mediated silencing.
- The mutations caused problems in RISC formation and affected AGO2's interaction with mRNA, highlighting the significance of proper gene expression regulation for human brain development.
