SHANK1 and autism spectrum disorders

Science China. Life Sciences
XiaoHong Gong, Hongyan Wang

Abstract

Autism spectrum disorders (ASD) are highly heterogeneous pediatric developmental disorders with estimated heritability more than 70%. Although the genetic factors in ASD are mainly unknown, a large number of gene mutations have been found, especially in genes involved in neurogenesis. The Neurexin-Neuroligin-Shank (NRXN-NLGN-SHANK) pathway plays a key role in the formation, maturation and maintenance of synapses, consistent with the hypothesis of neurodevelopmental abnormality in ASD. Presynaptic NRXNs interact with postsynaptic NLGNs in excitatory glutamatergic synapses. SHANK proteins function as core components of the postsynaptic density (PSD) by interacting with multiple proteins. Recently, deletions and point mutations of the SHANK1 gene have been detected in ASD individuals, indicating the involvement of SHANK1 in ASD. This review focuses on the function of SHANK1 protein, Shank1 mouse models, and the molecular genetics of the SHANK1 gene in human ASD.

References

Jul 25, 1970·Nature·G D Sewell
Jan 1, 1995·Psychological Medicine·A BaileyM Rutter
Nov 14, 1998·Journal of Autism and Developmental Disorders·P SzatmariJ E MacLean
Oct 21, 1999·Biochemical and Biophysical Research Communications·T M BoeckersE D Gundelfinger
Jul 27, 2002·Molecular Psychiatry·E Fombonne
Apr 2, 2003·Nature Genetics·Stéphane JamainUNKNOWN Paris Autism Research International Sibpair Study
Feb 14, 2004·American Journal of Human Genetics·Frédéric LaumonnierSylvain Briault
Jan 22, 2005·Journal of Neurochemistry·Tobias M BoeckersEckart D Gundelfinger
Jun 29, 2005·Proceedings of the National Academy of Sciences of the United States of America·Weiguo ShuJoseph D Buxbaum
Aug 4, 2005·European Journal of Human Genetics : EJHG·Tero Ylisaukko-ojaIrma Järvelä
Feb 6, 2007·Current Opinion in Neurobiology·Ann Marie Craig, Yunhee Kang
Apr 11, 2007·Journal of Neurochemistry·Silvana BeriRoberto Giorda
Jan 31, 2008·European Journal of Human Genetics : EJHG·Amy Lawson-YuenJonathan Picker
Feb 7, 2008·American Journal of Human Genetics·Christian R MarshallStephen W Scherer
Feb 15, 2008·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Albert Y HungMorgan Sheng
Jul 11, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Julie GauthierGuy A Rouleau
Apr 11, 2009·Autism Research : Official Journal of the International Society for Autism Research·Kathryn K ChadmanJacqueline N Crawley
May 26, 2009·Journal of Neuroscience Methods·Andreas M GrabruckerTobias M Boeckers
Jun 24, 2009·Current Opinion in Neurobiology·Thomas Bourgeron
Aug 4, 2009·Genetic Testing and Molecular Biomarkers·Andreas PampanosSophia Kitsiou-Tzeli
Sep 4, 2009·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Chen ZhangThomas C Südhof
Feb 6, 2010·Genes, Brain, and Behavior·S GaubG Ehret
Jun 11, 2010·Proceedings of the National Academy of Sciences of the United States of America·David M YoungLily Yeh Jan
Sep 28, 2010·Brain Research·Jill L SilvermanJacqueline N Crawley
Jan 11, 2011·The EMBO Journal·Andreas M GrabruckerTobias M Boeckers
Sep 9, 2011·European Archives of Psychiatry and Clinical Neuroscience·Leonhard LennertzRainald Mössner
Apr 17, 2012·American Journal of Human Genetics·Daisuke SatoStephen W Scherer
Apr 16, 2013·Neuron·Yong-Hui Jiang, Michael D Ehlers

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autism

Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research on autism.

Related Papers

Developmental Neurobiology
Audrey GuilmatreThomas Bourgeron
Autism : the International Journal of Research and Practice
Dermot Bowler
Autism : the International Journal of Research and Practice
Sven Bölte
Biological Psychiatry
Carolyn M YrigollenElena L Grigorenko
© 2021 Meta ULC. All rights reserved