Literature DB >> 24298145

Shank mutant mice as an animal model of autism.

Juyoun Yoo1, Joseph Bakes, Clarrisa Bradley, Graham L Collingridge, Bong-Kiun Kaang.   

Abstract

In this review, we focus on the role of the Shank family of proteins in autism. In recent years, autism research has been flourishing. With genetic, molecular, imaging and electrophysiological studies being supported by behavioural studies using animal models, there is real hope that we may soon understand the fundamental pathology of autism. There is also genuine potential to develop a molecular-level pharmacological treatment that may be able to deal with the most severe symptoms of autism, and clinical trials are already underway. The Shank family of proteins has been strongly implicated as a contributing factor in autism in certain individuals and sits at the core of the alleged autistic pathway. Here, we analyse studies that relate Shank to autism and discuss what light this sheds on the possible causes of autism.

Entities:  

Keywords:  Shank; autism; synaptic plasticity; synaptic theory of autism; synaptopathy

Mesh:

Substances:

Year:  2013        PMID: 24298145      PMCID: PMC3843875          DOI: 10.1098/rstb.2013.0143

Source DB:  PubMed          Journal:  Philos Trans R Soc Lond B Biol Sci        ISSN: 0962-8436            Impact factor:   6.237


  84 in total

1.  Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.

Authors:  M C Bonaglia; R Giorda; R Borgatti; G Felisari; C Gagliardi; A Selicorni; O Zuffardi
Journal:  Am J Hum Genet       Date:  2001-06-18       Impact factor: 11.025

2.  Calpain inhibitors block long-term potentiation.

Authors:  J B Denny; J Polan-Curtain; A Ghuman; M J Wayner; D L Armstrong
Journal:  Brain Res       Date:  1990-11-26       Impact factor: 3.252

3.  Analysis of four neuroligin genes as candidates for autism.

Authors:  Tero Ylisaukko-oja; Karola Rehnström; Mari Auranen; Raija Vanhala; Reija Alen; Elli Kempas; Pekka Ellonen; Joni A Turunen; Ismo Makkonen; Raili Riikonen; Taina Nieminen-von Wendt; Lennart von Wendt; Leena Peltonen; Irma Järvelä
Journal:  Eur J Hum Genet       Date:  2005-12       Impact factor: 4.246

4.  Altered synaptic plasticity in a mouse model of fragile X mental retardation.

Authors:  Kimberly M Huber; Sean M Gallagher; Stephen T Warren; Mark F Bear
Journal:  Proc Natl Acad Sci U S A       Date:  2002-05-28       Impact factor: 11.205

5.  Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Authors:  Betul Bakkaloglu; Brian J O'Roak; Angeliki Louvi; Abha R Gupta; Jesse F Abelson; Thomas M Morgan; Katarzyna Chawarska; Ami Klin; A Gulhan Ercan-Sencicek; Althea A Stillman; Gamze Tanriover; Brett S Abrahams; Jackie A Duvall; Elissa M Robbins; Daniel H Geschwind; Thomas Biederer; Murat Gunel; Richard P Lifton; Matthew W State
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

Review 6.  The mGluR theory of fragile X mental retardation.

Authors:  Mark F Bear; Kimberly M Huber; Stephen T Warren
Journal:  Trends Neurosci       Date:  2004-07       Impact factor: 13.837

7.  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

8.  Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome.

Authors:  Jennifer A Ronesi; Katie A Collins; Seth A Hays; Nien-Pei Tsai; Weirui Guo; Shari G Birnbaum; Jia-Hua Hu; Paul F Worley; Jay R Gibson; Kimberly M Huber
Journal:  Nat Neurosci       Date:  2012-01-22       Impact factor: 24.884

9.  SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.

Authors:  C M Durand; J Perroy; F Loll; D Perrais; L Fagni; T Bourgeron; M Montcouquiol; N Sans
Journal:  Mol Psychiatry       Date:  2011-05-24       Impact factor: 15.992

10.  Mutations causing syndromic autism define an axis of synaptic pathophysiology.

Authors:  Benjamin D Auerbach; Emily K Osterweil; Mark F Bear
Journal:  Nature       Date:  2011-11-23       Impact factor: 49.962

View more
  29 in total

1.  Cell-Type-Specific Shank2 Deletion in Mice Leads to Differential Synaptic and Behavioral Phenotypes.

Authors:  Ryunhee Kim; Jihye Kim; Changuk Chung; Seungmin Ha; Seungjoon Lee; Eunee Lee; Ye-Eun Yoo; Woohyun Kim; Wangyong Shin; Eunjoon Kim
Journal:  J Neurosci       Date:  2018-03-23       Impact factor: 6.167

2.  SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons.

Authors:  Qingjian Han; Yong Ho Kim; Xiaoming Wang; Di Liu; Zhi-Jun Zhang; Alexandra L Bey; Mark Lay; Wonseok Chang; Temugin Berta; Yan Zhang; Yong-Hui Jiang; Ru-Rong Ji
Journal:  Neuron       Date:  2016-12-01       Impact factor: 17.173

3.  Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.

Authors:  Mallory Kerner-Rossi; Maria Gulinello; Steven Walkley; Kostantin Dobrenis
Journal:  Neurobiol Learn Mem       Date:  2018-05-14       Impact factor: 2.877

4.  Eighteen-year-old man with autism, obsessive compulsive disorder and a SHANK2 variant presents with severe anorexia that responds to high-dose fluoxetine.

Authors:  Zhen A Lu; Weiyi Mu; Lauren M Osborne; Zachary A Cordner
Journal:  BMJ Case Rep       Date:  2018-07-09

5.  Synaptic plasticity in health and disease: introduction and overview.

Authors:  T V P Bliss; G L Collingridge; R G M Morris
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2013-12-02       Impact factor: 6.237

6.  40-Hz Auditory Steady-State Response (ASSR) as a Biomarker of Genetic Defects in the SHANK3 Gene: A Case Report of 15-Year-Old Girl with a Rare Partial SHANK3 Duplication.

Authors:  Anastasia K Neklyudova; Galina V Portnova; Anna B Rebreikina; Victoria Yu Voinova; Svetlana G Vorsanova; Ivan Y Iourov; Olga V Sysoeva
Journal:  Int J Mol Sci       Date:  2021-02-14       Impact factor: 5.923

Review 7.  Genetics of glutamate and its receptors in autism spectrum disorder.

Authors:  Sabah Nisar; Ajaz A Bhat; Tariq Masoodi; Sheema Hashem; Sabah Akhtar; Tayyiba Akbar Ali; Sara Amjad; Sanjeev Chawla; Puneet Bagga; Michael P Frenneaux; Ravinder Reddy; Khalid Fakhro; Mohammad Haris
Journal:  Mol Psychiatry       Date:  2022-03-16       Impact factor: 13.437

Review 8.  The Metallome as a Link Between the "Omes" in Autism Spectrum Disorders.

Authors:  Janelle E Stanton; Sigita Malijauskaite; Kieran McGourty; Andreas M Grabrucker
Journal:  Front Mol Neurosci       Date:  2021-07-05       Impact factor: 5.639

9.  Gene Dosage- and Age-Dependent Differential Transcriptomic Changes in the Prefrontal Cortex of Shank2-Mutant Mice.

Authors:  Seungjoon Lee; Hyojin Kang; Hwajin Jung; Eunjoon Kim; Eunee Lee
Journal:  Front Mol Neurosci       Date:  2021-06-11       Impact factor: 5.639

Review 10.  Synaptic proteins and receptors defects in autism spectrum disorders.

Authors:  Jianling Chen; Shunying Yu; Yingmei Fu; Xiaohong Li
Journal:  Front Cell Neurosci       Date:  2014-09-11       Impact factor: 5.505

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.