Literature DB >> 19718887

[Autism: more evidence of a genetic cause].

Thomas Bourgeron1, Marion Leboyer, Richard Delorme.   

Abstract

Autism spectrum disorders (ASD) affect at least 1/200 individuals. They are characterized by impaired communication skills and social interaction, as well as restricted, repetitive and stereotyped behaviours. Recent studies point to a role of a synaptic pathway, including synaptic cell adhesion molecules (neuroligins and neurexins) and scaffolding proteins (SHANK3). Abnormal synapse formation/maintenance and an imbalance between GABAergic and glutamatergic synaptic currents seem to be involved in the etiology of ASD.

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Year:  2009        PMID: 19718887

Source DB:  PubMed          Journal:  Bull Acad Natl Med        ISSN: 0001-4079            Impact factor:   0.144


  5 in total

1.  Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.

Authors:  Rui Luo; Stephan J Sanders; Yuan Tian; Irina Voineagu; Ni Huang; Su H Chu; Lambertus Klei; Chaochao Cai; Jing Ou; Jennifer K Lowe; Matthew E Hurles; Bernie Devlin; Matthew W State; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2012-06-21       Impact factor: 11.025

2.  Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family.

Authors:  Antonella De Jaco; Michael Z Lin; Noga Dubi; Davide Comoletti; Meghan T Miller; Shelley Camp; Mark Ellisman; Margaret T Butko; Roger Y Tsien; Palmer Taylor
Journal:  J Biol Chem       Date:  2010-07-08       Impact factor: 5.157

3.  The wnt pathway in mood disorders.

Authors:  Gabriele Sani; Flavia Napoletano; Alberto Maria Forte; Giorgio D Kotzalidis; Isabella Panaccione; Giulio Maria Porfiri; Alessio Simonetti; Matteo Caloro; Nicoletta Girardi; Carla Ludovica Telesforo; Giulia Serra; Silvia Romano; Giovanni Manfredi; Valeria Savoja; Stefano Maria Tamorri; Alexia E Koukopoulos; Daniele Serata; Chiara Rapinesi; Antonio Del Casale; Ferdinando Nicoletti; Paolo Girardi
Journal:  Curr Neuropharmacol       Date:  2012-09       Impact factor: 7.363

4.  22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Authors:  Laura Ponson; Marie Gomot; Romuald Blanc; Catherine Barthelemy; Sylvie Roux; Arnold Munnich; Serge Romana; Nadia Aguillon-Hernandez; Valérie Malan; Frédérique Bonnet-Brilhault
Journal:  Transl Psychiatry       Date:  2018-08-08       Impact factor: 6.222

5.  An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum.

Authors:  Esther Suk King Lai; Hisako Nakayama; Taisuke Miyazaki; Takanobu Nakazawa; Katsuhiko Tabuchi; Kouichi Hashimoto; Masahiko Watanabe; Masanobu Kano
Journal:  Front Neural Circuits       Date:  2021-06-28       Impact factor: 3.492

  5 in total

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