Literature DB >> 27587985

Disconnecting CNTNAP2.

Martin Poot.   

Abstract

Entities:  

Year:  2016        PMID： 27587985      PMCID： PMC4988252          DOI： 10.1159/000447002

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  16 in total

Review 1.  CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Authors:  Dheeraj Malhotra; Jonathan Sebat
Journal:  Cell       Date:  2012-03-16       Impact factor: 41.582

2.  CASPR2 forms a complex with GPR37 via MUPP1 but not with GPR37(R558Q), an autism spectrum disorder-related mutation.

Authors:  Yuko Tanabe; Eriko Fujita-Jimbo; Mariko Y Momoi; Takashi Momoi
Journal:  J Neurochem       Date:  2015-06-03       Impact factor: 5.372

Review 3.  Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2015-02-03

4.  Structural Characterization of the Extracellular Domain of CASPR2 and Insights into Its Association with the Novel Ligand Contactin1.

Authors:  Eva N Rubio-Marrero; Gabriele Vincelli; Cy M Jeffries; Tanvir R Shaikh; Irene S Pakos; Fanomezana M Ranaivoson; Sventja von Daake; Borries Demeler; Antonella De Jaco; Guy Perkins; Mark H Ellisman; Jill Trewhella; Davide Comoletti
Journal:  J Biol Chem       Date:  2015-12-31       Impact factor: 5.157

5.  Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

Authors:  Kevin A Strauss; Erik G Puffenberger; Matthew J Huentelman; Steven Gottlieb; Seth E Dobrin; Jennifer M Parod; Dietrich A Stephan; D Holmes Morton
Journal:  N Engl J Med       Date:  2006-03-30       Impact factor: 91.245

6.  A candidate gene association study further corroborates involvement of contactin genes in autism.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2014-05-17

7.  Interaction proteomics of canonical Caspr2 (CNTNAP2) reveals the presence of two Caspr2 isoforms with overlapping interactomes.

Authors:  Ning Chen; Frank Koopmans; Aaron Gordon; Iryna Paliukhovich; Remco V Klaassen; Roel C van der Schors; Elior Peles; Matthijs Verhage; August B Smit; Ka Wan Li
Journal:  Biochim Biophys Acta       Date:  2015-02-21

Review 8.  Shining a light on CNTNAP2: complex functions to complex disorders.

Authors:  Pedro Rodenas-Cuadrado; Joses Ho; Sonja C Vernes
Journal:  Eur J Hum Genet       Date:  2013-05-29       Impact factor: 4.246

9.  CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.

Authors:  Christiane Zweier; Eiko K de Jong; Markus Zweier; Alfredo Orrico; Lilian B Ousager; Amanda L Collins; Emilia K Bijlsma; Merel A W Oortveld; Arif B Ekici; André Reis; Annette Schenck; Anita Rauch
Journal:  Am J Hum Genet       Date:  2009-11-05       Impact factor: 11.025

10.  CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Authors:  O Mercati; G Huguet; A Danckaert; G André-Leroux; A Maruani; M Bellinzoni; T Rolland; L Gouder; A Mathieu; J Buratti; F Amsellem; M Benabou; J Van-Gils; A Beggiato; M Konyukh; J-P Bourgeois; M J Gazzellone; R K C Yuen; S Walker; M Delépine; A Boland; B Régnault; M Francois; T Van Den Abbeele; A L Mosca-Boidron; L Faivre; Y Shimoda; K Watanabe; D Bonneau; M Rastam; M Leboyer; S W Scherer; C Gillberg; R Delorme; I Cloëz-Tayarani; T Bourgeron
Journal:  Mol Psychiatry       Date:  2016-05-10       Impact factor: 15.992
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