CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency-Reference-Cited by-同舟云学术

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

Published:2016-03-11 Issue:6278 Volume:351 Page:1199-1203
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

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

Reference27 articles.

1. The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome);Phelan K.;Molecular Syndromology,2012

2. Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

3. De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

4. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

5. Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

Cited by 133 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unravelling the role of SHANK3 mutations in targeted therapies for autism spectrum disorders;Discover Psychology;2024-09-06

2. The neurobiological mechanisms underlying the effects of exercise interventions in autistic individuals;Reviews in the Neurosciences;2024-07-31

3. An N‐terminal and ankyrin repeat domain interactome of Shank3 identifies the protein complex with the splicing regulator Nono in mice;Genes to Cells;2024-07-04

4. HuR controls glutaminase RNA metabolism;Nature Communications;2024-07-04

5. Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models;Translational Psychiatry;2024-06-10