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Author (up) Andoh-Noda, T.; Inouye, M.O.; Miyake, K.; Kubota, T.; Okano, H.; Akamatsu, W. url  openurl
  Title Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells Type Journal Article
  Year 2016 Publication CNS & Neurological Disorders Drug Targets Abbreviated Journal CNS Neurol Disord Drug Targets  
  Volume 15 Issue 5 Pages 544-550  
  Keywords  
  Abstract Rett syndrome (RTT) is one of a group of neurodevelopmental disorders typically characterized by deficits in the X-linked gene MECP2 (methyl-CpG binding protein 2). The MECP2 gene encodes a multifunctional protein involved in transcriptional repression, transcriptional activation, chromatin remodeling, and RNA splicing. Genetic deletion of Mecp2 in mice revealed neuronal disabilities including RTT-like phenotypes and provided an excellent platform for understanding the pathogenesis of RTT. So far, there are no effective pharmacological treatments for RTT because the role of MECP2 in RTT is incompletely understood. Recently, human induced pluripotent stem cell (hiPSC) technologies have improved our knowledge of neurological and neurodevelopmental diseases including RTT because neurons derived from RTT-hiPSCs can be used for disease modeling to understand RTT phenotypes and to perform high throughput pharmaceutical drug screening. In this review, we provide an overview of RTT, including MeCP2 function and mouse models of RTT. In addition, we introduce recent advances in disease modeling of RTT using hiPSC-derived neural cells.  
  Address Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, Japan. awado@juntendo.ac.jp  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 1871-5273 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:27071793 Approved no  
  Call Number refbase @ user @ Serial 16689  
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