De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
- 1 November 2017
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 101 (5), 716-724
- https://doi.org/10.1016/j.ajhg.2017.09.014
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Characterization of Fragile X Mental Retardation Protein Recruitment and Dynamics in Drosophila Stress GranulesPLOS ONE, 2013
- An integrated encyclopedia of DNA elements in the human genomeNature, 2012
- Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual DisabilityAmerican Journal of Human Genetics, 2012
- Makorin Ring Zinc Finger Protein 1 (MKRN1), a Novel Poly(A)-binding Protein-interacting Protein, Stimulates Translation in Nerve CellsOnline Journal of Public Health Informatics, 2012
- The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granulesHuman Molecular Genetics, 2011
- TEFM (c17orf42) is necessary for transcription of human mtDNANucleic Acids Research, 2011
- RNA helicases at work: binding and rearrangingTrends in Biochemical Sciences, 2011
- Ataxin-2 Interacts with the DEAD/H-Box RNA Helicase DDX6 and Interferes with P-Bodies and Stress GranulesMolecular Biology of the Cell, 2007
- Mutations in PRP43 That Uncouple RNA-Dependent NTPase Activity and Pre-mRNA Splicing FunctionBiochemistry, 2006
- Prp43 Is an Essential RNA-dependent ATPase Required for Release of Lariat-Intron from the SpliceosomeOnline Journal of Public Health Informatics, 2002