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Epigenetic Etiology of Intellectual Disability.
The Journal of Neuroscience : the official journal of the Society for Neuroscience
  • Shigeki Iwase, University of Michigan Medical School
  • Nathalie G Bérubé, Western University
  • Zhaolan Zhou, University of Pennsylvania Perelman School of Medicine
  • Nael Nadif Kasri, Radboud University Medical Centre
  • Elena Battaglioli, University of Milan
  • Marilyn Scandaglia, Instituto de Neurociencias
  • Angel Barco, Instituto de Neurociencias
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Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other epigenetic regulators have been genetically associated with ID disorders (IDDs). Here we review how alterations in the function of histone modifiers, chromatin remodelers, and methyl-DNA binding proteins contribute to neurodevelopmental defects and altered brain plasticity. We also discuss how progress in human genetics has led to the generation of mouse models that unveil the molecular etiology of ID, and outline the direction in which this field is moving to identify therapeutic strategies for IDDs. Importantly, because the chromatin regulators linked to IDDs often target common downstream genes and cellular processes, the impact of research in individual syndromes goes well beyond each syndrome and can also contribute to the understanding and therapy of other IDDs. Furthermore, the investigation of these disorders helps us to understand the role of chromatin regulators in brain development, plasticity, and gene expression, thereby answering fundamental questions in neurobiology.

Citation Information
Shigeki Iwase, Nathalie G Bérubé, Zhaolan Zhou, Nael Nadif Kasri, et al.. "Epigenetic Etiology of Intellectual Disability." The Journal of Neuroscience : the official journal of the Society for Neuroscience Vol. 37 Iss. 45 (2017) p. 10773 - 10782
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