CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

Author:

Bidinosti Michael1,Botta Paolo2,Krüttner Sebastian2,Proenca Catia C.1,Stoehr Natacha1,Bernhard Mario1,Fruh Isabelle1,Mueller Matthias1,Bonenfant Debora3,Voshol Hans3,Carbone Walter1,Neal Sarah J.4,McTighe Stephanie M.4,Roma Guglielmo1,Dolmetsch Ricardo E.4,Porter Jeffrey A.1,Caroni Pico2,Bouwmeester Tewis1,Lüthi Andreas2,Galimberti Ivan1

Affiliation:

1. Developmental Molecular Pathways, Novartis Institutes for Biomedical Research, Basel, Switzerland.

2. Friedrich Miescher Institute, Basel, Switzerland.

3. Analytical Sciences and Imaging, Novartis Institutes for Biomedical Research, Basel, Switzerland.

4. Neuroscience, Novartis Institutes for Biomedical Research, Cambridge, USA.

Abstract

Signal problems in autism spectrum disorder Autism spectrum disorders have many causes. Bidinosti et al. studied Phelan-McDermid syndrome (PMDS), one of the symptoms of which can be autism (see the Perspective by Burbach). The authors used neurons derived from these patients, as well as from mice, with the culprit gene disrupted and found that a chain of intracellular signals becomes imbalanced. Signaling and behavioral symptoms could be improved by a small-molecule therapeutic that inhibits a key kinase. Science , this issue p. 1199 ; see also p. 1153

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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