Cellular functions of eukaryotic RNA helicases and their links to human diseases

KE Bohnsack, S Yi, S Venus, E Jankowsky… - … Reviews Molecular Cell …, 2023 - nature.com
RNA helicases are highly conserved proteins that use nucleoside triphosphates to bind or
remodel RNA, RNA–protein complexes or both. RNA helicases are classified into the DEAD …

Sex chromosome effects on male–female differences in mammals

DM Snell, JMA Turner - Current Biology, 2018 - cell.com
Fundamental differences exist between males and females, encompassing anatomy,
physiology, behaviour, and genetics. Such differences undoubtedly play a part in the well …

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner… - Neuron, 2020 - cell.com
De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of
unexplained intellectual disability (ID) cases in females and are associated with autism …

DDX3X suppresses the susceptibility of hindbrain lineages to medulloblastoma

DM Patmore, A Jassim, E Nathan, RJ Gilbertson… - Developmental cell, 2020 - cell.com
Summary DEAD-Box Helicase 3 X-Linked (DDX3X) is frequently mutated in the Wingless
(WNT) and Sonic hedghog (SHH) subtypes of medulloblastoma—the commonest malignant …

Paralog studies augment gene discovery: DDX and DHX genes

I Paine, JE Posey, CM Grochowski… - The American Journal of …, 2019 - cell.com
Members of a paralogous gene family in which variation in one gene is known to cause
disease are eight times more likely to also be associated with human disease. Recent …

Specific catalytically impaired DDX3X mutants form sexually dimorphic hollow condensates

MC Owens, H Shen, A Yanas… - Nature …, 2024 - nature.com
Mutations in the RNA helicase DDX3X, implicated in various cancers and
neurodevelopmental disorders, often impair RNA unwinding and translation. However, the …

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

X Wang, JE Posey, JA Rosenfeld… - Annals of clinical …, 2018 - Wiley Online Library
De novo variants in DDX 3X account for 1–3% of unexplained intellectual disability (ID)
cases and are amongst the most common causes of ID especially in females. Forty‐seven …

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

G Kellaris, K Khan, SM Baig, IC Tsai, FM Zamora… - Human Genomics, 2018 - Springer
Background Intellectual disability (ID) is a common condition with a population prevalence
frequency of 1–3% and an enrichment for males, driven in part by the contribution of mutant …

A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders

IR e Silva, JHC Smetana, JF de Oliveira - International Journal of Biological …, 2024 - Elsevier
DEAD-box helicases are global regulators of liquid-liquid phase separation (LLPS), a
process that assembles membraneless organelles inside cells. An outstanding member of …

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

P Nicola, PR Blackburn, KJ Rasmussen… - American journal of …, 2019 - Wiley Online Library
DDX3X (Xp11. 4) encodes a DEAD‐box RNA helicase that escapes X chromosome
inactivation. Pathogenic variants in DDX3X have been shown to cause X‐linked intellectual …