Naisbitt S, Kim E, Tu JC, Xiao B, Sala C, Valtschanoff J, Weinberg RJ, Worley PF, Sheng M: Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor/PSD-95/GKAP complex and cortactin. Neuron. 1999, 23: 569-582. 10.1016/S0896-6273(00)80809-0.
Article
CAS
PubMed
Google Scholar
Sheng M: Excitatory synapses. Glutamate receptors put in their place. Nature. 1997, 386: 221-223. 10.1038/386221a0.
Article
CAS
PubMed
Google Scholar
Sheng M, Kim E: The Shank family of scaffold proteins. J Cell Sci. 2000, 113 (Pt 11): 1851-1856.
CAS
PubMed
Google Scholar
Yao I, Iida J, Nishimura W, Hata Y: Synaptic localization of SAPAP1, a synaptic membrane-associated protein. Genes Cells. 2003, 8: 121-129. 10.1046/j.1365-2443.2003.00622.x.
Article
CAS
PubMed
Google Scholar
Zitzer H, Richter D, Kreienkamp HJ: Agonist-dependent interaction of the rat somatostatin receptor subtype 2 with cortactin-binding protein 1. J Biol Chem. 1999, 274: 18153-18156. 10.1074/jbc.274.26.18153.
Article
CAS
PubMed
Google Scholar
Kreienkamp HJ, Soltau M, Richter D, Bockers T: Interaction of G-protein-coupled receptors with synaptic scaffolding proteins. Biochem Soc Trans. 2002, 30: 464-468. 10.1042/BST0300464.
Article
CAS
PubMed
Google Scholar
Tu JC, Xiao B, Naisbitt S, Yuan JP, Petralia RS, Brakeman P, Doan A, Aakalu VK, Lanahan AA, Sheng M, Worley PF: Coupling of mGluR/Homer and PSD-95 complexes by the Shank family of postsynaptic density proteins. Neuron. 1999, 23: 583-592. 10.1016/S0896-6273(00)80810-7.
Article
CAS
PubMed
Google Scholar
Kim JH, Kim JH, Yang E, Park JH, Yu YS, Kim KW: Shank 2 expression coincides with neuronal differentiation in the developing retina. Exp Mol Med. 2009, 41: 236-242. 10.3858/emm.2009.41.4.026.
Article
PubMed Central
CAS
PubMed
Google Scholar
Qualmann B, Boeckers TM, Jeromin M, Gundelfinger ED, Kessels MM: Linkage of the actin cytoskeleton to the postsynaptic density via direct interactions of Abp1 with the ProSAP/Shank family. J Neurosci. 2004, 24: 2481-2495. 10.1523/JNEUROSCI.5479-03.2004.
Article
CAS
PubMed
Google Scholar
Haeckel A, Ahuja R, Gundelfinger ED, Qualmann B, Kessels MM: The actin-binding protein Abp1 controls dendritic spine morphology and is important for spine head and synapse formation. J Neurosci. 2008, 28: 10031-10044. 10.1523/JNEUROSCI.0336-08.2008.
Article
CAS
PubMed
Google Scholar
Du Y, Weed SA, Xiong WC, Marshall TD, Parsons JT: Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons. Mol Cell Biol. 1998, 18: 5838-5851.
Article
PubMed Central
CAS
PubMed
Google Scholar
Cingolani LA, Goda Y: Actin in action: the interplay between the actin cytoskeleton and synaptic efficacy. Nat Rev Neurosci. 2008, 9: 344-356. 10.1038/nrn2373.
Article
CAS
PubMed
Google Scholar
Sheng M, Kim MJ: Postsynaptic signaling and plasticity mechanisms. Science. 2002, 298: 776-780. 10.1126/science.1075333.
Article
CAS
PubMed
Google Scholar
Vanderklish PW, Krushel LA, Holst BH, Gally JA, Crossin KL, Edelman GM: Marking synaptic activity in dendritic spines with a calpain substrate exhibiting fluorescence resonance energy transfer. Proc Natl Acad Sci USA. 2000, 97: 2253-2258. 10.1073/pnas.040565597.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M, Kim E: Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development. J Biol Chem. 1999, 274: 29510-29518. 10.1074/jbc.274.41.29510.
Article
CAS
PubMed
Google Scholar
Sugiyama Y, Kawabata I, Sobue K, Okabe S: Determination of absolute protein numbers in single synapses by a GFP-based calibration technique. Nat Methods. 2005, 2: 677-684. 10.1038/nmeth783.
Article
CAS
PubMed
Google Scholar
Sala C, Piech V, Wilson NR, Passafaro M, Liu G, Sheng M: Regulation of dendritic spine morphology and synaptic function by Shank and Homer. Neuron. 2001, 31: 115-130. 10.1016/S0896-6273(01)00339-7.
Article
CAS
PubMed
Google Scholar
Hung AY, Futai K, Sala C, Valtschanoff JG, Ryu J, Woodworth MA, Kidd FL, Sung CC, Miyakawa T, Bear MF: Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J Neurosci. 2008, 28: 1697-1708. 10.1523/JNEUROSCI.3032-07.2008.
Article
PubMed Central
CAS
PubMed
Google Scholar
Roussignol G, Ango F, Romorini S, Tu JC, Sala C, Worley PF, Bockaert J, Fagni L: Shank expression is sufficient to induce functional dendritic spine synapses in aspiny neurons. J Neurosci. 2005, 25: 3560-3570. 10.1523/JNEUROSCI.4354-04.2005.
Article
CAS
PubMed
Google Scholar
Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP: 22q13 deletion syndrome. Am J Med Genet. 2001, 101: 91-99. 10.1002/1096-8628(20010615)101:2<91::AID-AJMG1340>3.0.CO;2-C.
Article
CAS
PubMed
Google Scholar
Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B: Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet. 2003, 40: 690-696. 10.1136/jmg.40.9.690.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE: Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet. 2003, 40: 575-584. 10.1136/jmg.40.8.575.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O: Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet. 2001, 69: 261-268. 10.1086/321293.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O: Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet. 2006, 43: 822-828. 10.1136/jmg.2005.038604.
Article
PubMed Central
CAS
PubMed
Google Scholar
Phelan MC: Deletion 22q13.3 syndrome. Orphanet Journal of Rare Diseases. 2008, 3: 14-10.1186/1750-1172-3-14.
Article
PubMed Central
PubMed
Google Scholar
Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H: Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007, 39: 25-27. 10.1038/ng1933.
Article
PubMed Central
CAS
PubMed
Google Scholar
Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW: Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet. 2007, 81: 1289-1297. 10.1086/522590.
Article
PubMed Central
CAS
PubMed
Google Scholar
Gauthier J, Spiegelman D, Piton A, Lafreniere RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L: Novel de novo SHANK3 mutation in autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2009, 150B: 421-424. 10.1002/ajmg.b.30822.
Article
CAS
PubMed
Google Scholar
Gauthier J, Champagne N, Lafreniere RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Cote M, Noreau A: De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc Natl Acad Sci USA. 2010, 107: 7863-7868. 10.1073/pnas.0906232107.
Article
PubMed Central
CAS
PubMed
Google Scholar
Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D: Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet. 2010, 42: 489-491. 10.1038/ng.589.
Article
CAS
PubMed
Google Scholar
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS: Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010, 466: 368-372. 10.1038/nature09146.
Article
PubMed Central
CAS
PubMed
Google Scholar
Hughes ED, Qu YY, Genik SJ, Lyons RH, Pacheco CD, Lieberman AP, Samuelson LC, Nasonkin IO, Camper SA, Van Keuren ML, Saunders TL: Genetic variation in C57BL/6 ES cell lines and genetic instability in the Bruce4 C57BL/6 ES cell line. Mamm Genome. 2007, 18: 549-558. 10.1007/s00335-007-9054-0.
Article
CAS
PubMed
Google Scholar
Hellemans J, Mortier G, De Paepe A, Speleman F, Vandesompele J: qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol. 2007, 8: R19-10.1186/gb-2007-8-2-r19.
Article
PubMed Central
PubMed
Google Scholar
Yang Y, Wang XB, Frerking M, Zhou Q: Spine expansion and stabilization associated with long-term potentiation. J Neurosci. 2008, 28: 5740-5751. 10.1523/JNEUROSCI.3998-07.2008.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bozdagi O, Wang XB, Nikitczuk JS, Anderson TR, Bloss EB, Radice GL, Zhou Q, Benson DL, Huntley GW: Persistence of coordinated long-term potentiation and dendritic spine enlargement at mature hippocampal CA1 synapses requires N-cadherin. J Neurosci. 2010, 30: 9984-9989. 10.1523/JNEUROSCI.1223-10.2010.
Article
PubMed Central
CAS
PubMed
Google Scholar
Holtmaat AJ, Trachtenberg JT, Wilbrecht L, Shepherd GM, Zhang X, Knott GW, Svoboda K: Transient and persistent dendritic spines in the neocortex in vivo. Neuron. 2005, 45: 279-291. 10.1016/j.neuron.2005.01.003.
Article
CAS
PubMed
Google Scholar
Wearne SL, Rodriguez A, Ehlenberger DB, Rocher AB, Henderson SC, Hof PR: New techniques for imaging, digitization and analysis of three-dimensional neural morphology on multiple scales. Neuroscience. 2005, 136: 661-680. 10.1016/j.neuroscience.2005.05.053.
Article
CAS
PubMed
Google Scholar
Rodriguez A, Ehlenberger DB, Dickstein DL, Hof PR, Wearne SL: Automated three-dimensional detection and shape classification of dendritic spines from fluorescence microscopy images. PLoS One. 2008, 3: e1997-10.1371/journal.pone.0001997.
Article
PubMed Central
PubMed
Google Scholar
Rodriguez A, Ehlenberger DB, Hof PR, Wearne SL: Rayburst sampling, an algorithm for automated three-dimensional shape analysis from laser scanning microscopy images. Nat Protoc. 2006, 1: 2152-2161. 10.1038/nprot.2006.313.
Article
CAS
PubMed
Google Scholar
Bozdagi O, Rich E, Tronel S, Sadahiro M, Patterson K, Shapiro ML, Alberini CM, Huntley GW, Salton SR: The neurotrophin-inducible gene Vgf regulates hippocampal function and behavior through a brain-derived neurotrophic factor-dependent mechanism. J Neurosci. 2008, 28: 9857-9869. 10.1523/JNEUROSCI.3145-08.2008.
Article
PubMed Central
CAS
PubMed
Google Scholar
Huber KM, Kayser MS, Bear MF: Role for rapid dendritic protein synthesis in hippocampal mGluR-dependent long-term depression. Science. 2000, 288: 1254-1257. 10.1126/science.288.5469.1254.
Article
CAS
PubMed
Google Scholar
Dumutriu D, Hara Y, Berger S, Wadsworth S, Morrison J: Volume assisted measurement of puncta in 2 dimensions (VAMP2D): A new tool for accurate size quantification in fluorescent imaging. Society for Neurosience Annual Meeting. 2009, Chicago, IL: Society for Neuroscience Abstracts
Google Scholar
Scattoni ML, Gandhy SU, Ricceri L, Crawley JN: Unusual repertoire of vocalizations in the BTBR T+tf/J mouse model of autism. PLoS One. 2008, 3: e3067-10.1371/journal.pone.0003067.
Article
PubMed Central
PubMed
Google Scholar
Silverman JL, Turner SM, Barkan CL, Tolu SS, Saxena R, Hung AY, Sheng M, Crawley JN: Sociability and motor functions in Shank1 mutant mice. Brain Res. 2010,
Google Scholar
Scattoni ML, Ricceri L, Crawley JN: Unusual repertoire of vocalizations in adult BTBR T+tf/J mice during three types of social encounters. Genes Brain Behav. 2010
Google Scholar
Yang M, Crawley JN: Simple behavioral assessment of mouse olfaction. Curr Protoc Neurosci. 2009, Chapter 8 (Unit 8): 24-
PubMed
Google Scholar
Silverman JL, Yang M, Lord C, Crawley JN: Behavioural phenotyping assays for mouse models of autism. Nat Rev Neurosci. 2010, 11: 490-502. 10.1038/nrn2851.
Article
PubMed Central
CAS
PubMed
Google Scholar
Matsuzaki M, Honkura N, Ellis-Davies GC, Kasai H: Structural basis of long-term potentiation in single dendritic spines. Nature. 2004, 429: 761-766. 10.1038/nature02617.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kopec CD, Real E, Kessels HW, Malinow R: GluR1 links structural and functional plasticity at excitatory synapses. J Neurosci. 2007, 27: 13706-13718. 10.1523/JNEUROSCI.3503-07.2007.
Article
CAS
PubMed
Google Scholar
Nyby J: Ultrasonic vocalizations during sex behavior of male house mice (Mus musculus): a description. Behav Neural Biol. 1983, 39: 128-134. 10.1016/S0163-1047(83)90722-7.
Article
CAS
PubMed
Google Scholar
Maunakea AK, Nagarajan RP, Bilenky M, Ballinger TJ, D'Souza C, Fouse SD, Johnson BE, Hong C, Nielsen C, Zhao Y: Conserved role of intragenic DNA methylation in regulating alternative promoters. Nature. 2010, 466: 253-257. 10.1038/nature09165.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A, Buxbaum JD: Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities. Brain Res. 2010,
Google Scholar
Uchino S, Wada H, Honda S, Nakamura Y, Ondo Y, Uchiyama T, Tsutsumi M, Suzuki E, Hirasawa T, Kohsaka S: Direct interaction of post-synaptic density-95/Dlg/ZO-1 domain-containing synaptic molecule Shank3 with GluR1 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor. J Neurochem. 2006, 97: 1203-1214. 10.1111/j.1471-4159.2006.03831.x.
Article
CAS
PubMed
Google Scholar
Malinow R, Malenka RC: AMPA receptor trafficking and synaptic plasticity. Annu Rev Neurosci. 2002, 25: 103-126. 10.1146/annurev.neuro.25.112701.142758.
Article
CAS
PubMed
Google Scholar
Shi S, Hayashi Y, Esteban JA, Malinow R: Subunit-specific rules governing AMPA receptor trafficking to synapses in hippocampal pyramidal neurons. Cell. 2001, 105: 331-343. 10.1016/S0092-8674(01)00321-X.
Article
CAS
PubMed
Google Scholar
Park M, Penick EC, Edwards JG, Kauer JA, Ehlers MD: Recycling endosomes supply AMPA receptors for LTP. Science. 2004, 305: 1972-1975. 10.1126/science.1102026.
Article
CAS
PubMed
Google Scholar
Ehrlich I, Malinow R: Postsynaptic density 95 controls AMPA receptor incorporation during long-term potentiation and experience-driven synaptic plasticity. J Neurosci. 2004, 24: 916-927. 10.1523/JNEUROSCI.4733-03.2004.
Article
CAS
PubMed
Google Scholar
El-Husseini AE, Schnell E, Chetkovich DM, Nicoll RA, Bredt DS: PSD-95 involvement in maturation of excitatory synapses. Science. 2000, 290: 1364-1368.
CAS
PubMed
Google Scholar
Stein V, House DR, Bredt DS, Nicoll RA: Postsynaptic density-95 mimics and occludes hippocampal long-term potentiation and enhances long-term depression. J Neurosci. 2003, 23: 5503-5506.
CAS
PubMed
Google Scholar
King BH, Bostic JQ: An update on pharmacologic treatments for autism spectrum disorders. Child Adolesc Psychiatr Clin N Am. 2006, 15: 161-175. 10.1016/j.chc.2005.08.005.
Article
PubMed
Google Scholar
Bear MF, Huber KM, Warren ST: The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004, 27: 370-377. 10.1016/j.tins.2004.04.009.
Article
CAS
PubMed
Google Scholar
Ehninger D, Silva AJ: Genetics and neuropsychiatric disorders: treatment during adulthood. Nat Med. 2009, 15: 849-850. 10.1038/nm0809-849.
Article
CAS
PubMed
Google Scholar
Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, Flannery R, Jaenisch R, Sur M: Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA. 2009, 106: 2029-2034. 10.1073/pnas.0812394106.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ehninger D, de Vries PJ, Silva AJ: From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis. J Intellect Disabil Res. 2009, 53: 838-851. 10.1111/j.1365-2788.2009.01208.x.
Article
PubMed Central
CAS
PubMed
Google Scholar