#DDX3Xsyndrome A genetic neurodevelopmental disorder due to human #DDX3X mutations
In our preprint, we reveal highly pathogenic DDX3X syndrome mutations driving the assembly of persistent, solid-like DDX3X-condensates promoting neuronal death and A-beta aggregation.
www.biorxiv.org/content/10.6...
Abigail Poff, Nicole Moss & @debbysilver.bsky.social generated a #MouseModel of the #DDX3XSyndrome and demonstrated that missense and loss-of-function variants have similar effects on #corticogenesis but act through distinct molecular targets.
#RareDisease
Read doi.org/10.1242/dmm....
Encuentro de familias 2025, Oropesa del mar.
Un fin de semana maravilloso lleno de emociones, risas, y amor ❤️
Hasta el año que viene.
#DDX3Xsyndrome #sindromeDDX3X #enfermedadesraras #empezamosinvestigacion #biologosalpoder #ddx3x #ddx3syndrome #ddx3xsindrome #ddx3x
New paper from our lab!
Happy to contribute to this collective effort, advancing our understanding of DDX3X and its role in #DDX3Xsyndrome
