CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

  title={CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency},
  author={Michael Bidinosti and Paolo Botta and Sebastian Kr{\"u}ttner and Catia C. Proenca and Natacha Stoehr and Mario Bernhard and Isabelle Fruh and Matthias Otto M{\"u}ller and D{\'e}bora Bonenfant and Hans Voshol and Walter Carbone and Sarah J. Neal and Stephanie M. McTighe and Guglielmo Roma and Ricardo E Dolmetsch and Jeffrey A. Porter and Pico Caroni and Tewis Bouwmeester and Andreas L{\"u}thi and Ivan Galimberti},
SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD). We used unbiased, quantitative proteomics to identify changes in the phosphoproteome of Shank3-deficient neurons. Down-regulation of protein kinase B (PKB/Akt)–mammalian target of rapamycin complex 1 (mTORC1) signaling resulted from enhanced phosphorylation and activation of serine/threonine… CONTINUE READING
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