2024年12月24日 · DHX30 (DExH-Box Helicase 30) is a Protein Coding gene. Diseases associated with DHX30 include Neurodevelopmental Disorder With Variable Motor And …

DHX30 Syndrome, or NEDMIAL (Neurodevelopmental Disorder characterized with severe Motor Impairment and Absent Language), is an exceptionally rare neurodevelopmental disorder …

2022年9月26日 · We identified DHX30, an ATP-dependent RNA helicase, as a FUS-interacting protein. DHX30 localizes mainly within the mitochondrial matrix, serves as a component of the …

Relocalizes to stress granules upon heat stress (PubMed: 29100085). An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual …

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of …

Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe …

2021年5月21日 · We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30 -associated neurodevelopmental disorder. Clinical and …

2025年2月19日 · De novo pathogenic DHX30 variants in two cases. Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30. A double-stranded …

2024年11月3日 · Clinical resource with information about DHX30, Neurodevelopmental disorder with severe motor impairment and absent language, and available tests. There are links to …

DHX30 was recently implicated in the translation control of mRNAs involved in p53-dependent apoptosis. Here, we show that DHX30 exhibits a more general function by integrating the …