#ddx3x
Happy to share some good news today, and our latest study on DDX3X! Led by super talented @federicamosti.bsky.social we use live imaging, transcriptomics and interaction studies to define how clinically diverse missense mutations in DDX3X influence neural development. dx.plos.org/10.1371/jour...
Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations
Author summary DDX3X mutations are associated with neurodevelopmental disorders, including DDX3X syndrome and autism spectrum disorder. DDX3X is an RNA binding protein whose loss of function impairs b...
dx.plos.org
January 23, 2025 at 2:05 AM
🧪 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...
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 ...
www.nature.com
May 18, 2025 at 3:39 PM
🧪 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/...
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.
journals.biologists.com
February 2, 2025 at 3:24 PM
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
DDX3X is a Cl−-sensitive RNA helicase
A disease-associated mutation blocks Cl− binding from functionally affecting the RNA helicase DDX3X.
scim.ag
March 25, 2026 at 3:00 PM
Haven't read this properly yet but it looks like an incredibly interesting piece of the puzzle for neurodevelopmental disorders and translational control - just found the last author on here too @derubeislab.bsky.social, congratulations!

www.biorxiv.org/content/10.1...
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X
DDX3X is an X-linked RNA helicases that escapes X chromosome inactivation and is expressed at higher levels in female brains. Mutations in DDX3X are associated with intellectual disability (ID) and au...
www.biorxiv.org
November 26, 2024 at 9:43 AM
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
December 6, 2025 at 8:03 PM
It's celebration time: our first contribution to a better understanding of RNA structure and dynamics in biomolecular condensates together with Alberti lab - cool data from in vitro to in condenso to in vivo take a look 👇 @cmcb-tud.bsky.social @tudresden.bsky.social
www.cell.com/molecular-ce...
G3BP-driven RNP granules promote inhibitory RNA-RNA interactions resolved by DDX3X to regulate mRNA translatability
Trussina et al. demonstrate that the storage of mRNA molecules inside G3BP1-driven RNP granules facilitates the formation of RNA-RNA interactions, preventing the mRNA from being translated. The DEAD-box helicase DDX3X facilitates RNP granule dissolution by attenuating these inhibitory RNA-RNA interactions to aid restart of mRNA translation.
www.cell.com
December 26, 2024 at 4:05 PM
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X https://www.biorxiv.org/content/10.1101/2024.11.22.624865v1
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X https://www.biorxiv.org/content/10.1101/2024.11.22.624865v1
DDX3X is an X-linked RNA helicases that escapes X chromosome inactivation and is expressed at higher
www.biorxiv.org
November 23, 2024 at 3:16 AM
New preprint from my group! We used SHAPE-MaP to measure RNA structure of DDX3X-sensitive mRNAs, developed a colorimetric translation reporter for DDX3X activity, and identified amino acids in DDX3X that mediate interaction with the translation machinery:
www.biorxiv.org/content/10.1...
Determinants of DDX3X sensitivity uncovered using a helicase activity in translation reporter
bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution
www.biorxiv.org
September 18, 2023 at 5:16 PM
The X and Y chromosomes each encodes homologous RNA helicases, DDX3X & DDX3Y.

They negatively cross-regulate each other via mRNA destabilization.
◼️ This buffers the protein levels of DDX3X and DDX3Y.

genome.cshlp.org/content/earl...
Post-transcriptional cross- and auto-regulation buffer expression of the human RNA helicases DDX3X and DDX3Y
An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms
genome.cshlp.org
January 13, 2025 at 12:42 PM
Happy to share an update to a 2018 preprint from @labwaggoner.bsky.social and our collaborators! Added Mb1-Cre models and mechanistic insights into Ddx3x regulation of B cell development @biorxivpreprint.bsky.social
www.biorxiv.org/content/10.1...
Find Ddx3x is required in B cells in females
November 29, 2025 at 2:06 AM
SARS-CoV-2 Nucleocapsid Links with DDX3X to Aid Infection

www.thailandmedical.news/news/sars-co...
SARS-CoV-2 Nucleocapsid Links with DDX3X to Aid Infection - Thailand Medical News
www.thailandmedical.news
January 12, 2026 at 1:17 AM
DDX3X can cause a neurodevelopmental disorder in males. 🧬
📢 A new cohort of affected males broadens the spectrum. ⬇️

www.nature.com/articles/s41...
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
www.nature.com
August 26, 2025 at 10:25 AM
So grateful to NINDS and The DDX3X Foundation for funding our research. This funding is critical for basic science research and for us to make new discoveries to help understand DDX3X Syndrome and Autism associated with DDX3X mutations!!!
January 23, 2025 at 2:16 AM
DDX3X overexpression in mice can cause rapid tissue-specific toxicity and mortality @moltherapy.bsky.social
www.cell.com/molecular-th...
July 15, 2026 at 8:31 PM
Don’t miss this week’s issue of #ScienceSignaling!

A new study shows how chloride ions shape the function of an RNA-unwinding enzyme, real-time cell imaging experiments uncover a new layer of complexity in GPCR signaling, and more. https://scim.ag/40QgdN7
March 24, 2026 at 9:00 PM
NEW STUDY from Adele Mossa, Lauren Dierdorff, Jeronimo Lukin, Silvia De Rubeis, et al. unveils sex-specific molecular signatures when Ddx3x is missing, impacting the neuronal proteome, protein synthesis machinery & nucleoli structure. Learn More @natcomms.nature.com 👉 www.nature.com/articles/s41...
June 2, 2025 at 12:00 AM
Congrats to my PhD student Kayla Mason!!

Scientists discover a genetic mechanism that protects the developing female heart.
news.unchealthcare.org/2026/07/gene...

Scientific article: genesdev.cshlp.org/content/40/1...

#DDX3X #RNA #HeartDevelopment #CongenitalHeartDisease
July 22, 2026 at 6:22 PM
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
June 12, 2025 at 11:22 AM
DDX3X mutations impair innate immunity and promote EBV lytic gene BNLF2b expression to induce R-loop-dependent oncogenesis in EBV-associated cancers @cp-cellreports.bsky.social
www.sciencedirect.com/science/arti...
September 7, 2025 at 3:02 PM