Literature DB >> 29427308

Shank3 mutations and HCN channelopathy: one size does not fit all.

Patricia Monteiro1,2.   

Abstract

Entities:  

Keywords:  Hcn channel; Shank3; Thalamus

Mesh：

Substances：

Year:  2018        PMID： 29427308      PMCID： PMC5878215          DOI： 10.1113/JP275828

Source DB:  PubMed          Journal:  J Physiol        ISSN： 0022-3751            Impact factor:   5.182


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  6 in total

1.  Differential distribution of four hyperpolarization-activated cation channels in mouse brain.

Authors:  S Moosmang; M Biel; F Hofmann; A Ludwig
Journal:  Biol Chem       Date:  1999 Jul-Aug       Impact factor: 3.915

2.  Shank3-deficient thalamocortical neurons show HCN channelopathy and alterations in intrinsic electrical properties.

Authors:  Mengye Zhu; Vinay Kumar Idikuda; Jianbing Wang; Fusheng Wei; Virang Kumar; Nikhil Shah; Christopher B Waite; Qinglian Liu; Lei Zhou
Journal:  J Physiol       Date:  2018-02-21       Impact factor: 5.182

3.  Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons.

Authors:  Fei Yi; Tamas Danko; Salome Calado Botelho; Christopher Patzke; ChangHui Pak; Marius Wernig; Thomas C Südhof
Journal:  Science       Date:  2016-03-10       Impact factor: 47.728

Review 4.  SHANK proteins: roles at the synapse and in autism spectrum disorder.

Authors:  Patricia Monteiro; Guoping Feng
Journal:  Nat Rev Neurosci       Date:  2017-02-09       Impact factor: 34.870

5.  Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

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

6.  Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice.

Authors:  Xiaoming Wang; Qiong Xu; Alexandra L Bey; Yoonji Lee; Yong-Hui Jiang
Journal:  Mol Autism       Date:  2014-04-25       Impact factor: 7.509
  6 in total

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