Dysregulation of mRNA Localization and Translation in Genetic Disease
Name
Wang-2016-Dysregulation of mRNA Localization a.pdf
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617.16 KB
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Checksum (MD5)
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Author(s)
Wang, Eric T.
Lee, Ji-Ann
Sudhakaran, Indulekha P.
Rossoll, Wilfried
Gross, Christina
Moss, Kathryn R.
Bassell, Gary J.
Taliaferro, Jefferson Matthew
Date Issued
November 2016
Journal
The Journal of Neuroscience
Publisher
Biomed Central Ltd.
Citation
Wang, Eric T. et al. “Dysregulation of mRNA Localization and Translation in Genetic Disease.” The Journal of Neuroscience 36.45 (2016): 11418–11426.
Version
Final published version
Abstract
RNA-binding proteins (RBPs) acting at various steps in the post-transcriptional regulation of gene expression play crucial roles in neuronal development and synaptic plasticity. Genetic mutations affecting several RBPs and associated factors lead to diverse neurological symptoms, as characterized by neurodevelopmental and neuropsychiatric disorders, neuromuscular and neurodegenerative diseases, and can often be multisystemic diseases. We will highlight the physiological roles of a few specific proteins in molecular mechanisms of cytoplasmic mRNA regulation, and how these processes are dysregulated in genetic disease. Recent advances in computational biology and genomewide analysis, integrated with diverse experimental approaches and model systems, have provided new insights into conserved mechanisms and the shared pathobiology of mRNA dysregulation in disease. Progress has been made to understand the pathobiology of disease mechanisms for myotonic dystrophy, spinal muscular atrophy, and fragile X syndrome, with broader implications for other RBP-associated genetic neurological diseases. This gained knowledge of underlying basic mechanisms has paved the way to the development of therapeutic strategies targeting disease mechanisms.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Terms of Use
Creative Commons Attribution 4.0 International License
Persistent DSpace Link
DOI of Published Version
https://doi.org/10.1523/JNEUROSCI.2352-16.2016
