Literature DB >> 22440525

Cellular and synaptic network defects in autism.

João Peça1, Guoping Feng.   

Abstract

Many candidate genes are now thought to confer susceptibility to autism spectrum disorders (ASDs). Here we review four interrelated complexes, each composed of multiple families of genes that functionally coalesce on common cellular pathways. We illustrate a common thread in the organization of glutamatergic synapses and suggest a link between genes involved in Tuberous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synaptic ASD candidate genes. When viewed in this context, progress in deciphering the molecular architecture of cellular protein-protein interactions together with the unraveling of synaptic dysfunction in neural networks may prove pivotal to advancing our understanding of ASDs.
Copyright © 2012. Published by Elsevier Ltd.

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Year:  2012        PMID: 22440525      PMCID: PMC3407823          DOI: 10.1016/j.conb.2012.02.015

Source DB:  PubMed          Journal:  Curr Opin Neurobiol        ISSN: 0959-4388            Impact factor:   6.627


  68 in total

1.  Association of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndrome.

Authors:  Michael Feyder; Rose-Marie Karlsson; Poonam Mathur; Matthew Lyman; Roland Bock; Reza Momenan; Jeeva Munasinghe; Maria Luisa Scattoni; Jessica Ihne; Marguerite Camp; Carolyn Graybeal; Douglas Strathdee; Alison Begg; Veronica A Alvarez; Peter Kirsch; Marcella Rietschel; Sven Cichon; Henrik Walter; Andreas Meyer-Lindenberg; Seth G N Grant; Andrew Holmes
Journal:  Am J Psychiatry       Date:  2010-10-15       Impact factor: 18.112

2.  The human disease network.

Authors:  Kwang-Il Goh; Michael E Cusick; David Valle; Barton Childs; Marc Vidal; Albert-László Barabási
Journal:  Proc Natl Acad Sci U S A       Date:  2007-05-14       Impact factor: 11.205

Review 3.  Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Authors:  Catalina Betancur
Journal:  Brain Res       Date:  2010-12-01       Impact factor: 3.252

Review 4.  Multiple rare SAPAP3 missense variants in trichotillomania and OCD.

Authors:  S Züchner; J R Wendland; A E Ashley-Koch; A L Collins; K N Tran-Viet; K Quinn; K C Timpano; M L Cuccaro; M A Pericak-Vance; D C Steffens; K R Krishnan; G Feng; D L Murphy
Journal:  Mol Psychiatry       Date:  2009-01       Impact factor: 15.992

5.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors:  Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal:  Nature       Date:  2009-04-28       Impact factor: 49.962

6.  Disruption of neurexin 1 associated with autism spectrum disorder.

Authors:  Hyung-Goo Kim; Shotaro Kishikawa; Anne W Higgins; Ihn-Sik Seong; Diana J Donovan; Yiping Shen; Eric Lally; Lauren A Weiss; Juliane Najm; Kerstin Kutsche; Maria Descartes; Lynn Holt; Stephen Braddock; Robin Troxell; Lee Kaplan; Fred Volkmar; Ami Klin; Katherine Tsatsanis; David J Harris; Ilse Noens; David L Pauls; Mark J Daly; Marcy E MacDonald; Cynthia C Morton; Bradley J Quade; James F Gusella
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

7.  Identification and characterization of the tuberous sclerosis gene on chromosome 16.

Authors: 
Journal:  Cell       Date:  1993-12-31       Impact factor: 41.582

8.  Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors:  H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

Review 9.  Autism and tuberous sclerosis.

Authors:  S L Smalley
Journal:  J Autism Dev Disord       Date:  1998-10

10.  Shank3 mutant mice display autistic-like behaviours and striatal dysfunction.

Authors:  João Peça; Cátia Feliciano; Jonathan T Ting; Wenting Wang; Michael F Wells; Talaignair N Venkatraman; Christopher D Lascola; Zhanyan Fu; Guoping Feng
Journal:  Nature       Date:  2011-03-20       Impact factor: 49.962

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  37 in total

1.  Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits.

Authors:  Guomei Tang; Kathryn Gudsnuk; Sheng-Han Kuo; Marisa L Cotrina; Gorazd Rosoklija; Alexander Sosunov; Mark S Sonders; Ellen Kanter; Candace Castagna; Ai Yamamoto; Zhenyu Yue; Ottavio Arancio; Bradley S Peterson; Frances Champagne; Andrew J Dwork; James Goldman; David Sulzer
Journal:  Neuron       Date:  2014-08-21       Impact factor: 17.173

2.  Pyrroloquinoline Quinone Decelerates Rheumatoid Arthritis Progression by Inhibiting Inflammatory Responses and Joint Destruction via Modulating NF-κB and MAPK Pathways.

Authors:  Zhongbing Liu; Chi Sun; Ran Tao; Xinbao Xu; Libin Xu; Hongbing Cheng; Youhua Wang; Dongmei Zhang
Journal:  Inflammation       Date:  2016-02       Impact factor: 4.092

Review 3.  Drug discovery for autism spectrum disorder: challenges and opportunities.

Authors:  Anirvan Ghosh; Aubin Michalon; Lothar Lindemann; Paulo Fontoura; Luca Santarelli
Journal:  Nat Rev Drug Discov       Date:  2013-10       Impact factor: 84.694

Review 4.  Disrupted development and imbalanced function in the global neuronal workspace: a positive-feedback mechanism for the emergence of ASD in early infancy.

Authors:  Chris Fields; James F Glazebrook
Journal:  Cogn Neurodyn       Date:  2016-11-15       Impact factor: 5.082

5.  Monitoring cell-cell contacts in vivo in transgenic animals.

Authors:  Ting-Hao Huang; Tarciso Velho; Carlos Lois
Journal:  Development       Date:  2016-09-22       Impact factor: 6.868

6.  Shank3 mutation in a mouse model of autism leads to changes in the S-nitroso-proteome and affects key proteins involved in vesicle release and synaptic function.

Authors:  Haitham Amal; Boaz Barak; Vadiraja Bhat; Guanyu Gong; Brian A Joughin; Xin Wang; John S Wishnok; Guoping Feng; Steven R Tannenbaum
Journal:  Mol Psychiatry       Date:  2018-07-09       Impact factor: 15.992

Review 7.  NMDA receptor activation regulates sociability by its effect on mTOR signaling activity.

Authors:  Jessica A Burket; Andrew D Benson; Amy H Tang; Stephen I Deutsch
Journal:  Prog Neuropsychopharmacol Biol Psychiatry       Date:  2015-02-20       Impact factor: 5.067

8.  Bifenthrin causes transcriptomic alterations in mTOR and ryanodine receptor-dependent signaling and delayed hyperactivity in developing zebrafish (Danio rerio).

Authors:  Daniel F Frank; Galen W Miller; Danielle J Harvey; Susanne M Brander; Juergen Geist; Richard E Connon; Pamela J Lein
Journal:  Aquat Toxicol       Date:  2018-04-18       Impact factor: 4.964

9.  Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.

Authors:  Angela Sagar; Jeffrey R Bishop; D Clare Tessman; Steve Guter; Christa L Martin; Edwin H Cook
Journal:  Am J Med Genet A       Date:  2013-02-26       Impact factor: 2.802

10.  Impaired synaptic development in a maternal immune activation mouse model of neurodevelopmental disorders.

Authors:  Pierluca Coiro; Ragunathan Padmashri; Anand Suresh; Elizabeth Spartz; Gurudutt Pendyala; Shinnyi Chou; Yoosun Jung; Brittney Meays; Shreya Roy; Nagsen Gautam; Yazen Alnouti; Ming Li; Anna Dunaevsky
Journal:  Brain Behav Immun       Date:  2015-07-26       Impact factor: 7.217

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