Nature Communications (Jan 2018)

Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway

  • Xuemei Chen,
  • Shuai Wang,
  • Ying Zhou,
  • Yanfei Han,
  • Shengtian Li,
  • Qing Xu,
  • Longyong Xu,
  • Ziqi Zhu,
  • Youming Deng,
  • Lu Yu,
  • Lulu Song,
  • Adele Pin Chen,
  • Juan Song,
  • Eiki Takahashi,
  • Guang He,
  • Lin He,
  • Weidong Li,
  • Charlie Degui Chen

DOI
https://doi.org/10.1038/s41467-017-02531-y
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 11

Abstract

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Mutations in PHF8 gene are genetically associated with X-linked mental retardation. Here, Chen et al. show that Phf8 KO mouse have cognitive and synaptic plasticity impairment, and pharmacological inhibition of mTOR signaling can partially alleviate such defects.