Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2025 May;41(5):437-449.
doi: 10.1016/j.tig.2024.12.006. Epub 2025 Jan 18.

DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders

Chiara Fiorenzani  1 , Adele Mossa  1 , Silvia De Rubeis  2
Affiliations
Review

DEAD/DEAH-box RNA helicases shape the risk of neurodevelopmental disorders

Chiara Fiorenzani et al. Trends Genet. 2025 May.

Abstract

The DEAD/DEAH-box family of RNA helicases (RHs) is among the most abundant and conserved in eukaryotes. These proteins catalyze the remodeling of RNAs to regulate their splicing, stability, localization, and translation. Rare genetic variants in DEAD/DEAH-box proteins have recently emerged as being associated with neurodevelopmental disorders (NDDs). Analyses in cellular and animal models have uncovered fundamental roles for these proteins during brain development. We discuss the genetic and functional evidence that implicates DEAD/DEAH-box proteins in brain development and NDDs, with a focus on how structural insights from paralogous genes can be leveraged to advance our understanding of the pathogenic mechanisms at play.

Keywords: DEAD/DEAH box; RNA helicases; RNA metabolism; autism spectrum disorder; intellectual disability; neurodevelopment.

PubMed Disclaimer

Conflict of interest statement

Declaration of interests The authors declare no competing interests.

References

    1. De Rubeis S et al. (2017) Charney & Nestler’s Neurobiology of Mental Illness. In Neurodevelopmental Mechanisms of Pediatric Psychiatric DisordersAnimal and Human Studies (Charney DS. et al., eds), Oxford University Press
    1. Di Bella DJ et al. (2021) Molecular logic of cellular diversification in the mouse cerebral cortex. Nature 595, 554–559. 10.1038/s41586-021-03670-5 - DOI - PMC - PubMed
    1. Sepp M et al. (2024) Cellular development and evolution of the mammalian cerebellum. Nature 625, 788–796. 10.1038/s41586-023-06884-x - DOI - PMC - PubMed
    1. Fu JM et al. (2022) Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat Genet 54, 1320–1331. 10.1038/s41588-022-01104-0 - DOI - PMC - PubMed
    1. Deciphering Developmental Disorders S (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature 542, 433–438. 10.1038/nature21062 - DOI - PMC - PubMed

MeSH terms

Substances

LinkOut - more resources