Journal: bioRxiv
Article Title: DDX3X syndrome mutations lock DDX3X-RNA conformational states to drive persistent pathological condensation and neuronal death
doi: 10.64898/2026.01.29.702492
Figure Lengend Snippet: A . Schematic representation of DDX3X protein showing pathogenic mutations identified in DDX3X syndrome patients (bold- multiple occurrences, blue- polymicrogyria, brown- male patients). B . Schematic representation of DDX3X functional domains indicating critical DDX3X syndrome-associated mutations selected based on their predicted structural impact. Blue, RNA binding sites; Red, ATP binding and hydrolysis regions; Magenta, regions of interaction between ATP binding and RNA binding residues. C . Ribbon structural representation of DDX3X (dark grey) bound to dsRNA (red) (PDB ID: 6O5F), displaying surface accessibility and RNA interface proximity of DDX3X syndrome mutations. Mutated residues are color-coded in the represented structure. D . Heat map depicting the AlphaMissense prediction for the likely pathogenicity of selected DDX3X syndrome missense mutations, with dark red being the likely pathogenic and white being the likely benign mutation. E . Table depicting selected mutations in DDX3X that have been associated with different cancer types. F . Immunoblotting analysis of DDX3X showing the impact of DDX3X syndrome mutations on protein expression in Neuro2a cells. G . Fluorescence images of N2a cells expressing DDX3X-mCherry with DDX3X syndrome mutations, captured using Incucyte imager.
Article Snippet: Real-time cell death analysis were performed using a two-colour IncuCyte S3 Live-Cell analysis instrument (Sartorius).
Techniques: Functional Assay, RNA Binding Assay, Binding Assay, Mutagenesis, Western Blot, Expressing, Fluorescence