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Author Notes:

Correspondence should be addressed to either of the following: Dr. Gary J. Bassell, Department of Cell Biology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322. gbassel@emory.edu; or Dr. Eric T. Wang, Center for NeuroGenetics, University of Florida, Gainesville, FL 32610. eric.t.wang@ufl.edu

E.T.W. is a consultant for 5AM Ventures. The remaining authors declare no competing financial interests.

Subjects:

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Neurosciences
  • Neurosciences & Neurology
  • 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)
  • FRAGILE-X-SYNDROME
  • SPINAL MUSCULAR-ATROPHY
  • MENTAL-RETARDATION PROTEIN
  • MOTOR-NEURON PROTEIN
  • LONG-TERM-MEMORY
  • 3' UNTRANSLATED REGIONS
  • MYOTONIC-DYSTROPHY
  • BINDING PROTEIN
  • SYNAPTIC PLASTICITY
  • LOCAL TRANSLATION

Dysregulation of mRNA Localization and Translation in Genetic Disease

Tools:

Journal Title:

Journal of Neuroscience Nursing

Volume:

Volume 36, Number 45

Publisher:

, Pages 11418-11426

Type of Work:

Article | Final Publisher PDF

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.

Copyright information:

© 2016 the authors.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
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