Literature DB >> 12669065

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Stéphane Jamain1, Hélène Quach, Catalina Betancur, Maria Råstam, Catherine Colineaux, I Carina Gillberg, Henrik Soderstrom, Bruno Giros, Marion Leboyer, Christopher Gillberg, Thomas Bourgeron.   

Abstract

Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.

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Year:  2003        PMID： 12669065      PMCID： PMC1925054          DOI： 10.1038/ng1136

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  16 in total

1.  Common EF-hand motifs in cholinesterases and neuroligins suggest a role for Ca2+ binding in cell surface associations.

Authors:  I Tsigelny; I N Shindyalov; P E Bourne; T C Südhof; P Taylor
Journal:  Protein Sci       Date:  2000-01       Impact factor: 6.725

2.  Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons.

Authors:  P Scheiffele; J Fan; J Choih; R Fetter; T Serafini
Journal:  Cell       Date:  2000-06-09       Impact factor: 41.582

Review 3.  Genetics of autism: complex aetiology for a heterogeneous disorder.

Authors:  S E Folstein; B Rosen-Sheidley
Journal:  Nat Rev Genet       Date:  2001-12       Impact factor: 53.242

Review 4.  Synaptic cell adhesion proteins and synaptogenesis in the mammalian central nervous system.

Authors:  N Brose
Journal:  Naturwissenschaften       Date:  1999-11

5.  Genomic screen and follow-up analysis for autistic disorder.

Authors:  Yujun Shao; Chantelle M Wolpert; Kimberly L Raiford; Marisa M Menold; Shannon L Donnelly; Sarah A Ravan; Meredyth P Bass; Cate McClain; Lennart von Wendt; Jeffery M Vance; Ruth H Abramson; Harry H Wright; Allison Ashley-Koch; John R Gilbert; Robert G DeLong; Michael L Cuccaro; Margaret A Pericak-Vance
Journal:  Am J Med Genet       Date:  2002-01-08

6.  Identification of a novel neuroligin in humans which binds to PSD-95 and has a widespread expression.

Authors:  M F Bolliger; K Frei; K H Winterhalter; S M Gloor
Journal:  Biochem J       Date:  2001-06-01       Impact factor: 3.857

7.  Linkage and association of the glutamate receptor 6 gene with autism.

Authors:  S Jamain; C Betancur; H Quach; A Philippe; M Fellous; B Giros; C Gillberg; M Leboyer; T Bourgeron
Journal:  Mol Psychiatry       Date:  2002       Impact factor: 15.992

8.  The structure and expression of the human neuroligin-3 gene.

Authors:  R A Philibert; S L Winfield; H K Sandhu; B M Martin; E I Ginns
Journal:  Gene       Date:  2000-04-04       Impact factor: 3.688

9.  Structures, alternative splicing, and neurexin binding of multiple neuroligins.

Authors:  K Ichtchenko; T Nguyen; T C Südhof
Journal:  J Biol Chem       Date:  1996-02-02       Impact factor: 5.157

10.  Neuroligin 1: a splice site-specific ligand for beta-neurexins.

Authors:  K Ichtchenko; Y Hata; T Nguyen; B Ullrich; M Missler; C Moomaw; T C Südhof
Journal:  Cell       Date:  1995-05-05       Impact factor: 41.582
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  685 in total

Review 1.  Molecular mechanisms of synaptic specificity in developing neural circuits.

Authors:  Megan E Williams; Joris de Wit; Anirvan Ghosh
Journal:  Neuron       Date:  2010-10-06       Impact factor: 17.173

Review 2.  Trisomy 21 and early brain development.

Authors:  Tarik F Haydar; Roger H Reeves
Journal:  Trends Neurosci       Date:  2011-12-09       Impact factor: 13.837

3.  PICK1 mediates synaptic recruitment of AMPA receptors at neurexin-induced postsynaptic sites.

Authors:  Junyu Xu; Chuen Kam; Jian-Hong Luo; Jun Xia
Journal:  J Neurosci       Date:  2014-11-12       Impact factor: 6.167

Review 4.  Networking in autism: leveraging genetic, biomarker and model system findings in the search for new treatments.

Authors:  Jeremy Veenstra-VanderWeele; Randy D Blakely
Journal:  Neuropsychopharmacology       Date:  2011-09-21       Impact factor: 7.853

Review 5.  Processing of cholinesterase-like α/β-hydrolase fold proteins: alterations associated with congenital disorders.

Authors:  Antonella De Jaco; Davide Comoletti; Noga Dubi; Shelley Camp; Palmer Taylor
Journal:  Protein Pept Lett       Date:  2012-02       Impact factor: 1.890

Review 6.  The genetics of Tourette disorder.

Authors:  Matthew W State
Journal:  Curr Opin Genet Dev       Date:  2011-01-27       Impact factor: 5.578

Review 7.  The contribution of GABAergic dysfunction to neurodevelopmental disorders.

Authors:  Kartik Ramamoorthi; Yingxi Lin
Journal:  Trends Mol Med       Date:  2011-04-21       Impact factor: 11.951

8.  ESTHER, the database of the alpha/beta-hydrolase fold superfamily of proteins.

Authors:  Thierry Hotelier; Ludovic Renault; Xavier Cousin; Vincent Negre; Pascale Marchot; Arnaud Chatonnet
Journal:  Nucleic Acids Res       Date:  2004-01-01       Impact factor: 16.971

9.  Contribution of SHANK3 mutations to autism spectrum disorder.

Authors:  Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2007-10-16       Impact factor: 11.025

10.  Congenital hypothyroidism mutations affect common folding and trafficking in the α/β-hydrolase fold proteins.

Authors:  Antonella De Jaco; Noga Dubi; Shelley Camp; Palmer Taylor
Journal:  FEBS J       Date:  2012-11-01       Impact factor: 5.542
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