Cellular functions of eukaryotic RNA helicases and their links to human diseases
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 …
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 …
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
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 …
unexplained intellectual disability (ID) cases in females and are associated with autism …
DDX3X suppresses the susceptibility of hindbrain lineages to medulloblastoma
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 …
(WNT) and Sonic hedghog (SHH) subtypes of medulloblastoma—the commonest malignant …
Paralog studies augment gene discovery: DDX and DHX genes
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 …
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 …
neurodevelopmental disorders, often impair RNA unwinding and translation. However, the …
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
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 …
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
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 …
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
DEAD-box helicases are global regulators of liquid-liquid phase separation (LLPS), a
process that assembles membraneless organelles inside cells. An outstanding member of …
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 …
inactivation. Pathogenic variants in DDX3X have been shown to cause X‐linked intellectual …