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• W2234849566 abstract "RNA regulation participates in many aspects of brain development. There is substantial evidence that RNA dysregulation is critical in the pathogenesis of neurodevelopmental disorders, neurological diseases, and cancer. Several gene families encode RNA-binding proteins (RNABPs) that bind directly to RNA and orchestrate the post-transcriptional regulation of gene expression, including pre-mRNA splicing, stability, and poly(A) site usage. Among neural RNABPs, the Elavl and Msi families are the focus of neuronal development research owing to their hierarchical expression pattern: Msi1 is expressed in neural progenitor/stem cells, Elavl2 is expressed in early neuronal progenitors to mature neurons, and Elavl3/4 expression begins slightly later, during cortical neuron development. Traditional biochemical analyses provide mechanistic insight into RNA regulation by these RNABPs, and Drosophila and mouse genetic studies support a relationship between these RNABPs and several neurodevelopmental disorders. In addition, a recent cohort analysis of the human genome shows that genetic mutations and SNPs in these RNABPs are associated with various neurological disorders. Newly emerged technologies assess transcriptome-wide RNA-protein interactions in vivo. These technologies, combined with classical genetics methods, provide new insight into Elavl and Msi, not only with respect to their neurodevelopmental functions, but also their roles in several diseases. We review recent discoveries related to the two RNABP families in brain development and disease." @default.
• W2234849566 created "2016-06-24" @default.
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• W2234849566 date "2016-01-12" @default.
• W2234849566 modified "2023-09-27" @default.
• W2234849566 title "RNA regulation went wrong in neurodevelopmental disorders: The example of Msi/Elavl RNA binding proteins" @default.
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• W2234849566 doi "https://doi.org/10.1016/j.ijdevneu.2016.01.002" @default.
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