CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

M Bidinosti, P Botta, S Krüttner, CC Proenca, N Stoehr… - Science, 2016 - science.org
M Bidinosti, P Botta, S Krüttner, CC Proenca, N Stoehr, M Bernhard, I Fruh, M Mueller…
Science, 2016science.org
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 protein phosphatase 2A …
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 protein phosphatase 2A (PP2A) regulatory subunit, B56β, due to increased steady-state levels of its kinase, Cdc2-like kinase 2 (CLK2). Pharmacological and genetic activation of Akt or inhibition of CLK2 relieved synaptic deficits in Shank3-deficient and PMDS patient–derived neurons. CLK2 inhibition also restored normal sociability in a Shank3-deficient mouse model. Our study thereby provides a novel mechanistic and potentially therapeutic understanding of deregulated signaling downstream of Shank3 deficiency.
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