Literature DB >> 28179641

SHANK proteins: roles at the synapse and in autism spectrum disorder.

Patricia Monteiro1,2,3,4, Guoping Feng1,2.   

Abstract

Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human genetic data, as well as of in vitro and in vivo animal model data, may allow us to understand how disruption of SHANK scaffolding proteins affects the structure and function of neural circuits and alters behaviour.

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Year:  2017        PMID： 28179641     DOI： 10.1038/nrn.2016.183

Source DB:  PubMed          Journal:  Nat Rev Neurosci        ISSN： 1471-003X            Impact factor:   34.870


  98 in total

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Journal:  Am J Hum Genet       Date:  2001-06-18       Impact factor: 11.025

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Authors:  Tobias M Boeckers; Thomas Liedtke; Christina Spilker; Thomas Dresbach; Jürgen Bockmann; Michael R Kreutz; Eckart D Gundelfinger
Journal:  J Neurochem       Date:  2005-02       Impact factor: 5.372

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Review 4.  Model of autism: increased ratio of excitation/inhibition in key neural systems.

Authors:  J L R Rubenstein; M M Merzenich
Journal:  Genes Brain Behav       Date:  2003-10       Impact factor: 3.449

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Authors:  Tobias M Boeckers; Jürgen Bockmann; Michael R Kreutz; Eckart D Gundelfinger
Journal:  J Neurochem       Date:  2002-06       Impact factor: 5.372

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Authors:  Claire S Leblond; Caroline Nava; Anne Polge; Julie Gauthier; Guillaume Huguet; Serge Lumbroso; Fabienne Giuliano; Coline Stordeur; Christel Depienne; Kevin Mouzat; Dalila Pinto; Jennifer Howe; Nathalie Lemière; Christelle M Durand; Jessica Guibert; Elodie Ey; Roberto Toro; Hugo Peyre; Alexandre Mathieu; Frédérique Amsellem; Maria Rastam; I Carina Gillberg; Gudrun A Rappold; Richard Holt; Anthony P Monaco; Elena Maestrini; Pilar Galan; Delphine Heron; Aurélia Jacquette; Alexandra Afenjar; Agnès Rastetter; Alexis Brice; Françoise Devillard; Brigitte Assouline; Fanny Laffargue; James Lespinasse; Jean Chiesa; François Rivier; Dominique Bonneau; Beatrice Regnault; Diana Zelenika; Marc Delepine; Mark Lathrop; Damien Sanlaville; Caroline Schluth-Bolard; Patrick Edery; Laurence Perrin; Anne Claude Tabet; Michael J Schmeisser; Tobias M Boeckers; Mary Coleman; Daisuke Sato; Peter Szatmari; Stephen W Scherer; Guy A Rouleau; Catalina Betancur; Marion Leboyer; Christopher Gillberg; Richard Delorme; Thomas Bourgeron
Journal:  PLoS Genet       Date:  2014-09-04       Impact factor: 5.917

10.  Pharmacological enhancement of mGlu5 receptors rescues behavioral deficits in SHANK3 knock-out mice.

Authors:  C Vicidomini; L Ponzoni; D Lim; M J Schmeisser; D Reim; N Morello; D Orellana; A Tozzi; V Durante; P Scalmani; M Mantegazza; A A Genazzani; M Giustetto; M Sala; P Calabresi; T M Boeckers; C Sala; C Verpelli
Journal:  Mol Psychiatry       Date:  2016-03-29       Impact factor: 15.992
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  181 in total

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7.  Reintroduction of the archaic variant of NOVA1 in cortical organoids alters neurodevelopment.

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Review 10.  Dopaminergic dysfunction in neurodevelopmental disorders: recent advances and synergistic technologies to aid basic research.

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