Literature DB >> 20502490

Another piece of the autism puzzle.

Matthew W State.   

Abstract

A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation. SHANK2 encodes a scaffolding protein present in excitatory synapses. This finding sheds some light on the pathophysiology of social and cognitive disability.

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Year:  2010        PMID： 20502490     DOI： 10.1038/ng0610-478

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


  15 in total

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

Authors:  Stéphane Jamain; Hélène Quach; Catalina Betancur; Maria Råstam; Catherine Colineaux; I Carina Gillberg; Henrik Soderstrom; Bruno Giros; Marion Leboyer; Christopher Gillberg; Thomas Bourgeron
Journal:  Nat Genet       Date:  2003-05       Impact factor: 38.330

2.  Control of excitatory and inhibitory synapse formation by neuroligins.

Authors:  Ben Chih; Holly Engelman; Peter Scheiffele
Journal:  Science       Date:  2005-01-27       Impact factor: 47.728

3.  Neuroligins determine synapse maturation and function.

Authors:  Frédérique Varoqueaux; Gayane Aramuni; Randi L Rawson; Ralf Mohrmann; Markus Missler; Kurt Gottmann; Weiqi Zhang; Thomas C Südhof; Nils Brose
Journal:  Neuron       Date:  2006-09-21       Impact factor: 17.173

4.  Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Authors:  Simone Berkel; Christian R Marshall; Birgit Weiss; Jennifer Howe; Ralph Roeth; Ute Moog; Volker Endris; Wendy Roberts; Peter Szatmari; Dalila Pinto; Michael Bonin; Angelika Riess; Hartmut Engels; Rolf Sprengel; Stephen W Scherer; Gudrun A Rappold
Journal:  Nat Genet       Date:  2010-05-16       Impact factor: 38.330

5.  De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.

Authors:  Julie Gauthier; Nathalie Champagne; Ronald G Lafrenière; Lan Xiong; Dan Spiegelman; Edna Brustein; Mathieu Lapointe; Huashan Peng; Mélanie Côté; Anne Noreau; Fadi F Hamdan; Anjené M Addington; Judith L Rapoport; Lynn E Delisi; Marie-Odile Krebs; Ridha Joober; Ferid Fathalli; Fayçal Mouaffak; Ali P Haghighi; Christian Néri; Marie-Pierre Dubé; Mark E Samuels; Claude Marineau; Eric A Stone; Philip Awadalla; Philip A Barker; Salvatore Carbonetto; Pierre Drapeau; Guy A Rouleau
Journal:  Proc Natl Acad Sci U S A       Date:  2010-04-12       Impact factor: 11.205

6.  PTEN mutation in a family with Cowden syndrome and autism.

Authors:  A Goffin; L H Hoefsloot; E Bosgoed; A Swillen; J P Fryns
Journal:  Am J Med Genet       Date:  2001-08-08

7.  Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis.

Authors:  Dan Ehninger; Sangyeul Han; Carrie Shilyansky; Yu Zhou; Weidong Li; David J Kwiatkowski; Vijaya Ramesh; Alcino J Silva
Journal:  Nat Med       Date:  2008-06-22       Impact factor: 53.440

8.  Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice.

Authors:  Jing Zhou; Jacqueline Blundell; Shiori Ogawa; Chang-Hyuk Kwon; Wei Zhang; Christopher Sinton; Craig M Powell; Luis F Parada
Journal:  J Neurosci       Date:  2009-02-11       Impact factor: 6.167

9.  Correction of fragile X syndrome in mice.

Authors:  Gül Dölen; Emily Osterweil; B S Shankaranarayana Rao; Gordon B Smith; Benjamin D Auerbach; Sumantra Chattarji; Mark F Bear
Journal:  Neuron       Date:  2007-12-20       Impact factor: 17.173

10.  X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Authors:  Frédéric Laumonnier; Frédérique Bonnet-Brilhault; Marie Gomot; Romuald Blanc; Albert David; Marie-Pierre Moizard; Martine Raynaud; Nathalie Ronce; Eric Lemonnier; Patrick Calvas; Béatrice Laudier; Jamel Chelly; Jean-Pierre Fryns; Hans-Hilger Ropers; Ben C J Hamel; Christian Andres; Catherine Barthélémy; Claude Moraine; Sylvain Briault
Journal:  Am J Hum Genet       Date:  2004-02-12       Impact factor: 11.025
View more
  8 in total

1.  Glutamate receptors and learning and memory.

Authors:  Jozef Gécz
Journal:  Nat Genet       Date:  2010-11       Impact factor: 38.330

Review 2.  PSD95: A synaptic protein implicated in schizophrenia or autism?

Authors:  Austin A Coley; Wen-Jun Gao
Journal:  Prog Neuropsychopharmacol Biol Psychiatry       Date:  2017-11-21       Impact factor: 5.067

3.  Do puzzle pieces and autism puzzle piece logos evoke negative associations?

Authors:  Morton Ann Gernsbacher; Adam R Raimond; Jennifer L Stevenson; Jilana S Boston; Bev Harp
Journal:  Autism       Date:  2017-08-21

Review 4.  New frontiers in animal research of psychiatric illness.

Authors:  Arie Kaffman; John H Krystal; John J Krystal
Journal:  Methods Mol Biol       Date:  2012

Review 5.  Modeling autism by SHANK gene mutations in mice.

Authors:  Yong-Hui Jiang; Michael D Ehlers
Journal:  Neuron       Date:  2013-04-10       Impact factor: 17.173

6.  Sapap3 deletion causes dynamic synaptic density abnormalities: a longitudinal [11C]UCB-J PET study in a model of obsessive-compulsive disorder-like behaviour.

Authors:  Dorien Glorie; Jeroen Verhaeghe; Alan Miranda; Stef De Lombaerde; Sigrid Stroobants; Steven Staelens
Journal:  EJNMMI Res       Date:  2020-11-13       Impact factor: 3.138

7.  Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population.

Authors:  Yanyan Liu; Yasong Du; Wenwen Liu; Caohua Yang; Yan Liu; Hongyan Wang; Xiaohong Gong
Journal:  PLoS One       Date:  2013-02-26       Impact factor: 3.240

8.  Predicting the diagnosis of autism spectrum disorder using gene pathway analysis.

Authors:  E Skafidas; R Testa; D Zantomio; G Chana; I P Everall; C Pantelis
Journal:  Mol Psychiatry       Date:  2012-09-11       Impact factor: 15.992
  8 in total

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