DDX3X is a Cl−-sensitive RNA helicase A disease-associated mutation blocks Cl− binding from functionally affecting the RNA helicase DDX3X.

A new #ScienceSignaling study demonstrates how chloride ions alter the function of the RNA-unwinding enzyme #DDX3X and reveals how a mutation linked to a severe neurodevelopmental disorder could disrupt the regulation of neurodevelopment by chloride ions. https://scim.ag/4lQE2xP

#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...

We are thrilled (and not nervous at all 🤪) to announce that our very own Lauren Dierdorff 💫 will defend her PhD on Dec 10!

Lauren’s research examines the circuits underlying motor deficits in #DDX3X syndrome 🧠

Go Lauren!🍀💪

So excited about the 2026 DDX3X International Conference in Genova, Italy🐬

Looking forward to meet many #DDX3X families and share our research!

Stay tuned for the program!

@ddx3x-es.bsky.social
#raredisease
@sinaibrain.bsky.social

Any parents of kids with #Ddx3x on Bluesky?

¡Hoy también es el Día Internacional del DDX3X💜!Nos unimos a las familias, pacientes e investigadores para dar visibilidad, impulsar el diagnóstico temprano y apoyar la búsqueda de tratamientos.
#DDX3X #EnfermedadesRaras #DíaDDX3X #Investigación @csic.es

¡Gracias familias! Un fin de semana se queda corto, aunque da energía para afrontar nuevos retos.
Hoy, Día Internacional del DDX3X, saludamos y agradecemos a los que nos hemos cruzado en nuestro camino.
¡Juntos siempre sumamos! 💜💚 #sindromeDDX3X #enfermedadesraras #ddx3x

Today is DDX3X Awareness Day!

12th June marks the fifth annual International DDX3X Day!

Share our expert-written guide, freely available online at bit.ly/3VlQ0D5

#DDX3X #RareChromo #GeneDisorder #ChromosomeX #AwarenessDay #Unique #FamilySupport

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

DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review - European Journal of Human Genetics European Journal of Human Genetics - DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review

Important new study by @lotsb.bsky.social and colleagues on #DDX3X variants in males 🧬🧠

Comment to the new insights provided by the study and future directions 👇🏼

urldefense.proofpoint.com/v2/url?u=htt...

@ddx3x-es.bsky.social @rarediseasesint.bsky.social

We ❤️ to collaborate with Jörg Tatzelt’s team at
@ruhr-uni-bochum.de and Zhuhao Wu’s lab at Weill Cornell on this, and we look forward to more science together!

We are grateful to the many #DDX3X families whose stories inspire our work every day 🦋

@ddx3x-es.bsky.social

Genetic loss of Ddx3x disrupts how neurons develop with mechanisms that differ between females and males 🧠

We are committed to continue exploring the underpinnings of #DDX3X to bring therapeutic options for individuals living with this #raredisease.

Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X - Nature Communications Genetic mutations in the DDX3X gene are associated with a neurodevelopmental disorder primarily affecting females. Here authors show that Ddx3x mediates sexual dimorphisms during brain development at ...

🧪 New paper alert!

In new work led by Adele Mossa out now in @natcomms.nature.com, we find that the #autism risk gene #DDX3X is a critical regulator of sexual dimorphisms in neuronal neurodevelopment 🧬 🧠

www.nature.com/articles/s41...

¡Hazte TEAMING y ayúdanos a seguir investigando el síndrome de ddx3x!
Únete a nuestra comunidad a través de este link:
www.teaming.net/asociaciondd...

#ddx3xsindrome #ddx3x #enfermedadesraras #enfermedadesminoritarias #rarasperonoinvisibles #ddx3xawareness #raredisease #fundraising

Cortico-brainstem neurons of Ddx3x mutant female mice have altered laminar position and expression of CTIP2 and BRN1. (A) Retrograde tracing of cortico-brainstem neurons reaching the pons. Subpanel a, schematics of the coronal plane corresponding to the site of injection of rAVV-CAG-GFP (pontine reticular nucleus, PNRr), including a sagittal view. Subpanel b, coronal section of a brain 3 weeks after the stereotaxic surgery, showing the ipsilateral labeling of neurons extending axons from the MOp and SSp to the brainstem. Subpanel c, sagittal section of a brain 3 weeks after the stereotaxic surgery, as in subpanels a and b.

#DDX3X syndrome is a rare neurodevelopmental disorder affecting motor & cognitive functions. Using a mouse model of DDX3X 🐭 , Michael Flores & co investigate how the development and circuit organization of a layer five neuronal subpopulation in the cortex is disrupted. doi.org/10.1242/bio....

¡Quedan 16 días! Día Internacional de las Enfermedades raras.
#somosfeder #rarediseaseday #ddx3xsindrome #ddx3x #enfermedadesraras #enfermedadesminoritarias #rarasperonoinvisibles #ddx3xawareness #raredisease

This is one of the many examples of the impact #NIH Diversity Supplements:

🧪 enhancing biomedical research on an understudied pediatric #RareDisease, #DDX3X syndrome

🧑🏽‍🔬 contributing to the education and mentoring of American students and #futurescientists

A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X Summary: A subpopulation of cortical neurons is altered in a mouse model of DDX3X syndrome.

🧪 Prouder than ever to share new work supported by a NIH Diversity Supplement!

On @biologyopen.bsky.social, Michael Flores & Marta Garcia-Forn study a subset of neurons in 🐭 cortex and alterations in #DDX3X syndrome, a form of #autism in girls & women👇🏼

journals.biologists.com/bio/article/...

Me please? Working on #DDX3X syndrome. Thanks!

🎥Estreno del cortometraje La Batida, de César Ríos

📅Miércoles 4 de diciembre
📍Colegio Mayor Loyola, P.º de Juan XXIII, 17, Moncloa-Aravaca (Madrid).
🕣 19:30-20:30 H.

✍🏼Inscripción: docs.google.com/forms/d/e/1F...
¡Os esperamos allí! 💚💜
#ddx3x #ddx3xsindrome #enfermedadesraras #rarasperonoinvisibles

Entrega del cheque de la recaudación de la campaña de Sending con la colaboración de Fremap el mes pasado.
Gracias a todas las familias que han participado en esta campaña.💜💚
#ddx3syndrome #DDX3Xawareness #DDX3X #taponessolidarios #enfermedadesraras #rarasperonoinvisibles