Dysregulation of mRNA Localization and Translation in Genetic Disease

Sudhakaran, Indulekha P (2016) Dysregulation of mRNA Localization and Translation in Genetic Disease. Journal of Neurosciences in Rural Practice, 36 (45). pp. 11418-11426. ISSN 0976-3147

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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.

Item Type: Article
Uncontrolled Keywords: Fragile X Mental Retardation Protein (FMRP);Fragile X Syndrome (FXS);Muscleblind-like Splicing Regulator (MBNL);Myotonic Dystrophy (DM);RNA Binding Protein Fox-1 Homolog 1 (RBFOX1);Spinal Muscular Atrophy (SMA);Survival of Motor Neuron (SMN)
Subjects: Research > Research Center - Health Sciences
Depositing User: KMC Library
Date Deposited: 25 Jan 2017 15:45
Last Modified: 25 Jan 2017 15:45
URI: http://eprints.manipal.edu/id/eprint/148206

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