M. Schmeisser, Elodie Ey, Stephanie Wegener, Juergen Bockmann, A. Stempel, A. Kuebler, A. Janssen, Patrick Udvardi, E. Shiban, C. Spilker, D. Balschun, B. Skryabin, S. Dieck, K. Smalla, D. Montag, C. Leblond, P. Faure, N. Torquet, A. Sourd, R. Toro, A. Grabrucker, S. Shoichet, D. Schmitz, M. Kreutz, T. Bourgeron, E. Gundelfinger, Tobias Boeckers (2012)
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2Nature, 486
S. Jamain, Hélène Quach, C. Betancur, M. Råstam, C. Colineaux, C. Gillberg, Henrik Söderström, B. Giros, I. Gillberg, M. Leboyer, Christopher Gillberg, T. Bourgeron, Paris Research, International Study, Anne Philippe, Deborah Cohen, N. Chabane, M. Mouren-Siméoni, P. Pearl (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 34
T. Südhof (2008)
Neuroligins and neurexins link synaptic function to cognitive diseaseNature, 455
E. Gundelfinger, T. Boeckers, M. Baron, J. Bowie (2006)
A role for zinc in postsynaptic density asSAMbly and plasticity?Trends in biochemical sciences, 31 7
J. Silverman, S. Turner, Charlotte Barkan, Seda Tolu, Roheeni Saxena, A. Hung, M. Sheng, J. Crawley (2011)
Sociability and motor functions in Shank1 mutant miceBrain Research, 1380
M. Rae, D. Martin, G. Collingridge, A. Irving (2000)
Role of Ca2+ Stores in Metabotropicl-Glutamate Receptor-Mediated Supralinear Ca2+Signaling in Rat Hippocampal NeuronsThe Journal of Neuroscience, 20
J. Denny, J. Polan-Curtain, A. Ghuman, M. Wayner, D. Armstrong (1990)
Calpain inhibitors block long-term potentiationBrain Research, 534
B. Laggerbauer, D. Ostareck, Eva‐Maria Keidel, A. Ostareck-Lederer, U. Fischer (2001)
Evidence that fragile X mental retardation protein is a negative regulator of translation.Human molecular genetics, 10 4
M. Wöhr, F. Roullet, A. Hung, M. Sheng, J. Crawley (2011)
Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking BehaviorPLoS ONE, 6
World Health Organization. 1992 The ICD-10 classification for mental and behavioral disorders: clinical descriptions and diagnostic guidelines
J. Silverman, Mu Yang, C. Lord, J. Crawley (2010)
Behavioural phenotyping assays for mouse models of autismNature Reviews Neuroscience, 11
Mu Yang, O. Bozdagi, M. Scattoni, M. Wöhr, F. Roullet, Adam Katz, Danielle Abrams, David Kalikhman, Harrison Simon, L. Woldeyohannes, James Zhang, Mark Harris, Roheeni Saxena, J. Silverman, J. Buxbaum, J. Crawley (2012)
Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant MiceThe Journal of Neuroscience, 32
B. Bakkaloglu, B. Bakkaloglu, B. O’Roak, A. Louvi, Abha Gupta, Jesse Abelson, T. Morgan, K. Chawarska, A. Klin, A. Ercan-Sencicek, Althea Stillman, G. Tanriover, B. Abrahams, J. Duvall, Elissa Robbins, D. Geschwind, T. Biederer, M. Gunel, R. Lifton, M. State (2008)
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.American journal of human genetics, 82 1
G. Collingridge, S. Peineau, J. Howland, Y. Wang (2010)
Long-term depression in the CNSNature Reviews Neuroscience, 11
A. Poulopoulos, G. Aramuni, G. Meyer, Tolga Soykan, M. Hoon, Theofilos Papadopoulos, Mingyue Zhang, I. Paarmann, C. Fuchs, K. Harvey, P. Jedlicka, S. Schwarzacher, H. Betz, R. Harvey, N. Brose, Weiqi Zhang, F. Varoqueaux (2009)
Neuroligin 2 Drives Postsynaptic Assembly at Perisomatic Inhibitory Synapses through Gephyrin and CollybistinNeuron, 63
H. Kalkman (2012)
Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disordersNeuroscience & Biobehavioral Reviews, 36
M. Bonaglia, R. Giorda, E. Mani, G. Aceti, B. Anderlid, A. Baroncini, T. Pramparo, O. Zuffardi (2005)
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeJournal of Medical Genetics, 43
J. Peça, C. Feliciano, J. Ting, Wenting Wang, Michael Wells, T. Venkatraman, C. Lascola, Z. Fu, G. Feng (2011)
Shank3 mutant mice display autistic-like behaviours and striatal dysfunctionNature, 472
D. McDonald-McGinn, K. Sullivan, Bruno Marino, N. Philip, A. Swillen, J. Vorstman, E. Zackai, B. Emanuel, J. Vermeesch, Bernice Morrow, P. Scambler, A. Bassett (2015)
22q11.2 deletion syndromeNature Reviews Disease Primers
Tobias Böckers, M. Mameza, M. Kreutz, J. Bockmann, C. Weise, Fritz Buck, D. Richter, E. Gundelfinger, H. Kreienkamp (2001)
Synaptic Scaffolding Proteins in Rat BrainThe Journal of Biological Chemistry, 276
C. Durand, C. Durand, J. Perroy, François Loll, François Loll, D. Perrais, D. Perrais, L. Fagni, T. Bourgeron, M. Montcouquiol, M. Montcouquiol, N. Sans, N. Sans (2011)
SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanismMolecular Psychiatry, 17
Hyung-Goo Kim, Shotaro Kishikawa, A. Higgins, I. Seong, D. Donovan, Yiping Shen, Eric Lally, L. Weiss, J. Najm, K. Kutsche, M. Descartes, Lynn Holt, S. Braddock, Robin Troxell, L. Kaplan, F. Volkmar, A. Klin, K. Tsatsanis, D. Harris, I. Noens, D. Pauls, M. Daly, M. MacDonald, C. Morton, B. Quade, J. Gusella (2008)
Disruption of neurexin 1 associated with autism spectrum disorder.American journal of human genetics, 82 1
O. Bozdagi, T. Sakurai, Danae Papapetrou, Xiaobin Wang, D. Dickstein, N. Takahashi, Y. Kajiwara, Mu Yang, Adam Katz, M. Scattoni, Mark Harris, Roheeni Saxena, J. Silverman, J. Crawley, Qiang Zhou, P. Hof, J. Buxbaum (2010)
Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communicationMolecular Autism, 1
Aparna Suvrathan, C. Hoeffer, H. Wong, E. Klann, S. Chattarji (2010)
Characterization and reversal of synaptic defects in the amygdala in a mouse model of fragile X syndromeProceedings of the National Academy of Sciences, 107
John Connolly, H. Hakonarson (2011)
The Genetics of Autism Spectrum Disorders
K. Huber, Sean Gallagher, S. Warren, M. Bear (2002)
Altered synaptic plasticity in a mouse model of fragile X mental retardationProceedings of the National Academy of Sciences of the United States of America, 99
P. Mansheim (1979)
Tuberous sclerosis and autistic behavior.The Journal of clinical psychiatry, 40 2
T. Ylisaukko‐oja, K. Rehnström, M. Auranen, R. Vanhala, R. Alen, E. Kempas, P. Ellonen, J. Turunen, I. Makkonen, R. Riikonen, T. Wendt, L. Wendt, L. Peltonen, I. Järvelä (2005)
Analysis of four neuroligin genes as candidates for autismEuropean Journal of Human Genetics, 13
Sangmi Lim, S. Naisbitt, Jiyoung Yoon, J. Hwang, P. Suh, Morgan Sheng, Eunjoon Kim (1999)
Characterization of the Shank Family of Synaptic ProteinsThe Journal of Biological Chemistry, 274
A. Vaags, A. Lionel, Daisuke Sato, McKinsey Goodenberger, Q. Stein, S. Curran, C. Ogilvie, J. Ahn, Irene Drmic, Lili Senman, Christina Chrysler, A. Thompson, C. Russell, Aparna Prasad, S. Walker, D. Pinto, C. Marshall, D. Stavropoulos, L. Zwaigenbaum, B. Fernandez, E. Fombonne, P. Bolton, D. Collier, Jennelle Hodge, W. Roberts, P. Szatmari, S. Scherer (2012)
Rare deletions at the neurexin 3 locus in autism spectrum disorder.American journal of human genetics, 90 1
M. Bear, K. Huber, S. Warren (2004)
The mGluR theory of fragile X mental retardationTrends in Neurosciences, 27
Steve Chang, J. Gariépy, M. Platt (2012)
Neuronal reference frames for social decisions in primate frontal cortexNature neuroscience, 16
A. Verkerk, M. Pieretti, J. Sutcliffe, Ying-Hui Fu, D. Kuhl, A. Pizzuti, O. Reiner, S. Richards, Maureen Victoria, Fuping Zhang, Bert Eussen, G. Ommen, L. Blonden, G. Riggins, J. Chastain, Catherine Kunst, H. Galjaard, C. Caskey, D. Nelson, B. Oostra, S. Warren (1991)
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeCell, 65
A. Grabrucker, M. Knight, Christian Proepper, Juergen Bockmann, Marisa Joubert, Magali Rowan, G. Nienhaus, C. Garner, J. Bowie, M. Kreutz, E. Gundelfinger, Tobias Boeckers (2011)
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturationThe EMBO Journal, 30
J. Crabbe, D. Wahlsten, B. Dudek (1999)
Genetics of mouse behavior: interactions with laboratory environment.Science, 284 5420
H. Won, Hye-Ryeon Lee, H. Gee, Won Mah, Jae-Ick Kim, Jiseok Lee, Seungmin Ha, Changuk Chung, E. Jung, Y. Cho, Saegeun Park, Jung-Soo Lee, Kyungmin Lee, Daesoo Kim, Y. Bae, B. Kaang, Min Lee, Eunjoon Kim (2012)
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor functionNature, 486
C. and, E. Billstedt (2000)
Autism and Asperger syndrome: coexistence with other clinical disordersActa Psychiatrica Scandinavica, 102
Hualing Dong, R. O’Brien, Eric Fung, A. Lanahan, P. Worley, R. Huganir (1997)
GRIP: a synaptic PDZ domain-containing protein that interacts with AMPA receptorsNature, 386
Acta Psychiatr. Scand
R. Seese, A. Babayan, Adam Katz, Conor Cox, J. Lauterborn, G. Lynch, C. Gall (2012)
LTP Induction Translocates Cortactin at Distant Synapses in Wild-Type But Not Fmr1 Knock-Out MiceThe Journal of Neuroscience, 32
G. Lynch, M. Baudry (1987)
Brain spectrin, calpain and long-term changes in synaptic efficacyBrain Research Bulletin, 18
H. Asperger (1944)
Die „Autistischen Psychopathen” im KindesalterArchiv für Psychiatrie und Nervenkrankheiten, 117
D. Krueger, M. Bear (2011)
Toward fulfilling the promise of molecular medicine in fragile X syndrome.Annual review of medicine, 62
T. Bourgeron (2009)
A synaptic trek to autismCurrent Opinion in Neurobiology, 19
L. Kanner (1968)
Autistic disturbances of affective contact.Acta paedopsychiatrica, 35 4
Matsuo N (2010)
Behavioral profiles of three C57BL/6 substrainsFront. Behav. Neurosci., 4
Y. Lu, Zhengping Jia, C. Janus, J. Henderson, R. Gerlai, J. Wojtowicz, J. Roder, Samuel Re (1997)
Mice Lacking Metabotropic Glutamate Receptor 5 Show Impaired Learning and Reduced CA1 Long-Term Potentiation (LTP) But Normal CA3 LTPThe Journal of Neuroscience, 17
J. Neurosci
H. Wilson, A. Wong, Steve Shaw, W. Tse, G. Stapleton, M. Phelan, S. Hu, J. Marshall, H. McDermid (2003)
Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptomsJournal of Medical Genetics, 40
Janet Williams (2013)
Diagnostic and Statistical Manual of Mental Disorders
S. Cerro, J. Larson, M. Oliver, G. Lynch (1990)
Development of hippocampal long-term potentiation is reduced by recently introduced calpain inhibitorsBrain Research, 530
P. Szatmari, A. Paterson, L. Zwaigenbaum, W. Roberts, J. Brian, Xiao-qing Liu, J. Vincent, J. Skaug, A. Thompson, Lili Senman, L. Feuk, Cheng Qian, S. Bryson, Marshall Jones, C. Marshall, S. Scherer, V. Vieland, Christopher Bartlett, L. Mangin, R. Goedken, Alberto Segre, M. Pericak-Vance, M. Cuccaro, J. Gilbert, H. Wright, R. Abramson, C. Betancur, T. Bourgeron, C. Gillberg, M. Leboyer, J. Buxbaum, K. Davis, E. Hollander, J. Silverman, Joachim Hallmayer, L. Lotspeich, J. Sutcliffe, J. Haines, S. Folstein, J. Piven, T. Wassink, V. Sheffield, D. Geschwind, M. Bucan, W. Brown, R. Cantor, J. Constantino, T. Gilliam, M. Herbert, C. Lajonchere, D. Ledbetter, Christa Lese-Martin, Janet Miller, S. Nelson, C. Samango-Sprouse, S. Spence, M. State, R. Tanzi, H. Coon, G. Dawson, B. Devlin, A. Estes, P. Flodman, L. Klei, W. McMahon, N. Minshew, J. Munson, E. Korvatska, P. Rodier, G. Schellenberg, Moyra Smith, M. Spence, C. Stodgell, P. Tepper, E. Wijsman, Chang-En Yu, B. Rogé, Carine Mantoulan, Kerstin Wittemeyer, A. Poustka, B. Felder, S. Klauck, C. Schuster, F. Poustka, S. Bölte, Sabine Feineis-Matthews, Evelyn Herbrecht, G. Schmötzer, J. Tsiantis, K. Papanikolaou, E. Maestrini, E. Bacchelli, F. Blasi, Simona Carone, Claudio Toma, H. Engeland, M. Jonge, C. Kemner, F. Koop, M. Langemeijer, Channa Hijmans, W. Staal, G. Baird, P. Bolton, M. Rutter, E. Weisblatt, Jonathan Green, C. Aldred, J. Wilkinson, A. Pickles, A. Couteur, T. Berney, H. McConachie, A. Bailey, Kostas Francis, Gemma Honeyman, A. Hutchinson, J. Parr, S. Wallace, A. Monaco, G. Barnby, Kazuhiro Kobayashi, J. Lamb, I. Sousa, N. Sykes, E. Cook, Stephen Guter, B. Leventhal, Jeff Salt, C. Lord, Christina Corsello, Vanessa Hus, D. Weeks, F. Volkmar, M. Tauber, E. Fombonne, A. Shih, Kacie Meyer (2007)
Mapping autism risk loci using genetic linkage and chromosomal rearrangementsNature Genetics, 39
Benjamin Auerbach, Emily Osterweil, M. Bear (2011)
Mutations causing syndromic autism define an axis of synaptic pathophysiologyNature, 480
Z. Bortolotto, V. Collett, F. Conquet, Zhengping Jia, H. Putten, G. Collingridge (2005)
The regulation of hippocampal LTP by the molecular switch, a form of metaplasticity, requires mGlu5 receptorsNeuropharmacology, 49
R. Tuchman, S. Moshé, I. Rapin (2009)
Convulsing toward the pathophysiology of autismBrain and Development, 31
Kanner L (1943)
Autistic disturbances of affective contactNerv. Child, 2
A. Hunt, J. Dennis (1987)
PSYCHIATRIC DISORDER AMONG CHILDREN WITH TUBEROUS SCLEROSISDevelopmental Medicine & Child Neurology, 29
Ali Sharma, C. Hoeffer, Y. Takayasu, Y. Takayasu, T. Miyawaki, T. Miyawaki, Sean Mcbride, E. Klann, R. Zukin (2010)
Dysregulation of mTOR Signaling in Fragile X SyndromeThe Journal of Neuroscience, 30
Xiaoming Wang, P. McCoy, R. Rodriguiz, Yanzhen Pan, H. Je, A. Roberts, C. Kim, Janet Berrios, Jennifer Colvin, Danielle Bousquet‐Moore, I. Lorenzo, Gangyi Wu, R. Weinberg, M. Ehlers, B. Philpot, A. Beaudet, W. Wetsel, Yong-hui Jiang (2011)
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.Human molecular genetics, 20 15
Raymond III, U. Geigenmüller, H. Hovhannisyan, E. Trautman, R. Pinard, B. Rathmell, Randall Carpenter, D. Margulies (2012)
High-Throughput Sequencing of mGluR Signaling Pathway Genes Reveals Enrichment of Rare Variants in AutismPLoS ONE, 7
Magali Arons, Charlotte Thynne, A. Grabrucker, Dong Li, Michael Schoen, J. Cheyne, T. Boeckers, J. Montgomery, C. Garner (2012)
Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin–Neuroligin-Mediated Transsynaptic SignalingThe Journal of Neuroscience, 32
Ming-gao Zhao, H. Toyoda, Shanelle Ko, Hoi-Ki Ding, Longjun Wu, M. Zhuo (2005)
Deficits in Trace Fear Memory and Long-Term Potentiation in a Mouse Model for Fragile X SyndromeThe Journal of Neuroscience, 25
A. Doherty, M. Palmer, J. Henley, G. Collingridge, D. Jane (1997)
(RS)-2-Chloro-5-Hydroxyphenylglycine (CHPG) Activates mGlu5, but not mGlu1, Receptors Expressed in CHO Cells and Potentiates NMDA Responses in the HippocampusNeuropharmacology, 36
F. Bertaso, G. Roussignol, P. Worley, J. Bockaert, L. Fagni, F. Ango (2010)
Homer1a-Dependent Crosstalk Between NMDA and Metabotropic Glutamate Receptors in Mouse NeuronsPLoS ONE, 5
Peter Tsai, Court Hull, Y. Chu, E. Greene-Colozzi, Abbey Sadowski, J. Leech, Jason Steinberg, J. Crawley, W. Regehr, M. Sahin (2012)
Autistic-like behavior and cerebellar dysfunction in Purkinje cell Tsc1 mutant miceNature, 488
S. Uyeda, J. Sclater, M. Slegtenhorst, R. Hoogt, C. Hermans, M. Nellist, B. Janssen, S. Verhoef, D. Lindhout, A. Ouweland, D. Halley, Janet Young, Mariwyn Burley, Steve Jeremiah, K. Woodward, J. Nahmias, M. Fox, R. Ekong, J. Osborne, J. Wolfe, S. Povey, R. Snell, J. Cheadle, A. Jones, Maria Tachataki, D. Ravine, J. Sampson, M. Reeve, Paul Richardson, Friederike Wilmer, Cheryl Munro, T. Hawkins, T. Sepp, S. Ward, A. Green, J. Yates, J. Kwiatkowska, E. Henske, M. Short, J. Haines, S. Jóźwiak, D. Kwiatkowski (1997)
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.Science, 277 5327
Am. J. Hum. Genet
Jinong Feng, R. Schroer, Jin Yan, Wenjia Song, Chunmei Yang, A. Bockholt, E. Cook, C. Skinner, C. Schwartz, S. Sommer (2006)
High frequency of neurexin 1β signal peptide structural variants in patients with autismNeuroscience Letters, 409
M. Baron, T. Boeckers, B. Vaida, S. Faham, M. Gingery, M. Sawaya, Danielle Salyer, E. Gundelfinger, J. Bowie (2006)
An Architectural Framework That May Lie at the Core of the Postsynaptic DensityScience, 311
Sung Han, Chao Tai, R. Westenbroek, F. Yu, Christine Cheah, G. Potter, J. Rubenstein, T. Scheuer, H. Iglesia, W. Catterall (2012)
Autistic behavior in Scn1a+/− mice and rescue by enhanced GABAergic transmissionNature, 489
Emily Osterweil, D. Krueger, K. Reinhold, M. Bear (2010)
Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X SyndromeThe Journal of Neuroscience, 30
Christos Gkogkas, A. Khoutorsky, I. Ran, E. Rampakakis, Tatiana Nevarko, D. Weatherill, C. Vasuta, Stephanie Yee, Morgan Truitt, P. Dallaire, F. Major, P. Lasko, D. Ruggero, K. Nader, J. Lacaille, N. Sonenberg (2012)
Autism-related deficits via dysregulated eIF4E-dependent translational controlNature, 493
Helen Bateup, K. Takasaki, Jessica Saulnier, Cassandra Denefrio, B. Sabatini (2011)
Loss of Tsc1 In Vivo Impairs Hippocampal mGluR-LTD and Increases Excitatory Synaptic FunctionThe Journal of Neuroscience, 31
Stephen Fitzjohna, A. Irving, M. Palmer, J. Harvey, D. Lodge, G. Collingridge (1996)
Activation of group I mG1uRs potentiates NMDA responses in rat hippocampal slicesNeuroscience Letters, 203
M. Bonaglia, R. Giorda, R. Borgatti, G. Felisari, C. Gagliardi, A. Selicorni, O. Zuffardi (2001)
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.American journal of human genetics, 69 2
Verinder Sharma, V. Burt (2010)
DSM-V: modifying the postpartum-onset specifier to include hypomaniaArchives of Women's Mental Health, 14
J. Gauthier, Tabrez Siddiqui, Huashan Peng, D. Yokomaku, F. Hamdan, N. Champagne, Mathieu Lapointe, D. Spiegelman, A. Noreau, R. Lafreniére, Ferid Fathalli, R. Joober, M. Krebs, L. DeLisi, L. Mottron, E. Fombonne, J. Michaud, P. Drapeau, S. Carbonetto, A. Craig, G. Rouleau (2011)
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaHuman Genetics, 130
C. Durand, C. Betancur, Tobias Boeckers, Juergen Bockmann, P. Chaste, F. Fauchereau, G. Nygren, M. Råstam, I. Gillberg, H. Anckarsäter, E. Sponheim, Hany Goubran‐Botros, R. Delorme, N. Chabane, M. Mouren-Siméoni, P. Mas, E. Bieth, B. Rogé, D. Heron, L. Burglen, C. Gillberg, M. Leboyer, T. Bourgeron (2007)
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersNature Genetics, 39
S. Naisbitt, Eunjoon Kim, J. Tu, B. Xiao, C. Sala, J. Valtschanoff, R. Weinberg, P. Worley, M. Sheng (1999)
Shank, a Novel Family of Postsynaptic Density Proteins that Binds to the NMDA Receptor/PSD-95/GKAP Complex and CortactinNeuron, 23
L. Eisenberg (1992)
Autism and Asperger syndromeThe Lancet, 339
J. Clement, M. Aceti, Thomas Creson, Emin Ozkan, Yulin Shi, N. Reish, Antoine Almonte, B. Miller, Brian Wiltgen, Courtney Miller, Xiangmin Xu, Gavin Rumbaugh (2012)
Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine SynapsesCell, 151
J. Tu, B. Xiao, S. Naisbitt, Joseph Yuan, R. Petralia, P. Brakeman, A. Doan, V. Aakalu, A. Lanahan, M. Sheng, P. Worley (1999)
Coupling of mGluR/Homer and PSD-95 Complexes by the Shank Family of Postsynaptic Density ProteinsNeuron, 23
D. Blumstein, L. Ebensperger, L. Hayes, Rodrigo Vásquez, Todd Ahern, Joseph Burger, Adam Dolezal, Andy Dosmann, Gabriela González-Mariscal, B. Harris, Emilio Herrera, Eileen Lacey, Jill Mateo, Lisa McGraw, Daniel Olazábal, M. Ramenofsky, D. Rubenstein, S. Sakhai, Wendy Saltzman, Cristina Sainz-Borgo, M. Soto-Gamboa, Monica Stewart, Tina Wey, J. Wingfield, Larry Young (2010)
Toward an integrative understanding of social behavior : new models and new opportunities
J. Autism Dev. Disord
Daisuke Sato, A. Lionel, C. Leblond, Aparna Prasad, D. Pinto, S. Walker, Irene O’Connor, C. Russell, Irene Drmic, F. Hamdan, J. Michaud, V. Endris, R. Roeth, R. Delorme, G. Huguet, M. Leboyer, M. Råstam, C. Gillberg, M. Lathrop, D. Stavropoulos, E. Anagnostou, R. Weksberg, E. Fombonne, L. Zwaigenbaum, B. Fernandez, W. Roberts, G. Rappold, C. Marshall, T. Bourgeron, P. Szatmari, S. Scherer (2012)
SHANK1 Deletions in Males with Autism Spectrum Disorder.American journal of human genetics, 90 5
M. Sheng, Eunjoon Kim (2000)
The Shank family of scaffold proteins.Journal of cell science, 113 ( Pt 11)
S. Berkel, C. Marshall, B. Weiss, J. Howe, R. Roeth, U. Moog, V. Endris, W. Roberts, P. Szatmari, D. Pinto, M. Bonin, A. Riess, H. Engels, R. Sprengel, S. Scherer, G. Rappold (2010)
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationNature Genetics, 42
D. Pinto, A. Pagnamenta, L. Klei, R. Anney, D. Merico, R. Regan, J. Conroy, T. Magalhães, C. Correia, B. Abrahams, J. Almeida, E. Bacchelli, Gary Bader, A. Bailey, G. Baird, A. Battaglia, T. Berney, N. Bolshakova, S. Bölte, P. Bolton, T. Bourgeron, Sean Brennan, J. Brian, S. Bryson, A. Carson, G. Casallo, J. Casey, B. Chung, L. Cochrane, Christina Corsello, Emily Crawford, Andrew Crossett, C. Cytrynbaum, G. Dawson, M. Jonge, R. Delorme, Irene Drmic, E. Duketis, F. Duque, A. Estes, Penny Farrar, B. Fernandez, S. Folstein, E. Fombonne, C. Freitag, J. Gilbert, C. Gillberg, J. Glessner, J. Goldberg, A. Green, Jonathan Green, Stephen Guter, H. Hakonarson, E. Heron, M. Hill, R. Holt, J. Howe, G. Hughes, Vanessa Hus, R. Igliozzi, Cecilia Kim, S. Klauck, A. Kolevzon, Olena Korvatska, Vlad Kustanovich, C. Lajonchere, J. Lamb, Magdalena Laskawiec, M. Leboyer, A. Couteur, B. Leventhal, A. Lionel, Xiao-qing Liu, C. Lord, L. Lotspeich, Sabata Lund, E. Maestrini, W. Mahoney, Carine Mantoulan, C. Marshall, H. McConachie, C. McDougle, J. McGrath, W. McMahon, Alison Merikangas, O. Migita, N. Minshew, G. Mirza, J. Munson, S. Nelson, Carolyn Noakes, A. Noor, G. Nygren, G. Oliveira, K. Papanikolaou, J. Parr, B. Parrini, T. Paton, A. Pickles, M. Pilorge, J. Piven, C. Ponting, D. Posey, A. Poustka, F. Poustka, Aparna Prasad, J. Ragoussis, Katy Renshaw, Jessica Rickaby, W. Roberts, K. Roeder, B. Rogé, M. Rutter, L. Bierut, J. Rice, Jeff Salt, K. Sansom, Daisuke Sato, R. Segurado, A. Sequeira, Lili Senman, N. Shah, V. Sheffield, L. Soorya, I. Sousa, O. Stein, N. Sykes, Vera Stoppioni, Christina Strawbridge, R. Tancredi, K. Tansey, Bhooma Thiruvahindrapduram, A. Thompson, Susanne Thomson, A. Tryfon, J. Tsiantis, H. Engeland, J. Vincent, F. Volkmar, S. Wallace, Kai Wang, Zhouzhi Wang, T. Wassink, C. Webber, R. Weksberg, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Jing Wu, B. Yaspan, Danielle Zurawiecki, L. Zwaigenbaum, J. Buxbaum, R. Cantor, E. Cook, H. Coon, M. Cuccaro, B. Devlin, S. Ennis, L. Gallagher, D. Geschwind, M. Gill, J. Haines, Joachim Hallmayer, Judith Miller, A. Monaco, J. Nurnberger, A. Paterson, M. Pericak-Vance, G. Schellenberg, P. Szatmari, A. Vicente, V. Vieland, E. Wijsman, S. Scherer, J. Sutcliffe, C. Betancur (2010)
Functional impact of global rare copy number variation in autism spectrum disordersNature, 466
Zhenzhong Li, Youyi Zhang, Li Ku, K. Wilkinson, S. Warren, Yue Feng (2001)
The fragile X mental retardation protein inhibits translation via interacting with mRNA.Nucleic acids research, 29 11
A. Hung, K. Futai, C. Sala, J. Valtschanoff, J. Ryu, M. Woodworth, F. Kidd, C. Sung, T. Miyakawa, M. Bear, R. Weinberg, M. Sheng (2008)
Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1The Journal of Neuroscience, 28
(2009)
Autism Lancet
T. Uruno, Jiali Liu, Peijun Zhang, Ying‐xin Fan, C. Egile, Rong Li, S. Mueller, X. Zhan (2001)
Activation of Arp2/3 complex-mediated actin polymerization by cortactinNature Cell Biology, 3
M. Alarcón, B. Abrahams, J. Stone, J. Duvall, Julia Perederiy, J. Bomar, J. Sebat, M. Wigler, C. Martin, D. Ledbetter, S. Nelson, R. Cantor, D. Geschwind (2008)
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.American journal of human genetics, 82 1
M. Hayashi, Chunyan Tang, C. Verpelli, R. Narayanan, M. Stearns, R. Xu, Huilin Li, C. Sala, Y. Hayashi (2009)
The Postsynaptic Density Proteins Homer and Shank Form a Polymeric Network StructureCell, 137
L. Wakschlag, E. Cook, D. Hammond, B. Leventhal, J. Hopkins (1991)
Autism and tuberous sclerosisJournal of Autism and Developmental Disorders, 21
J. Kwag, O. Paulsen (2012)
Gating of NMDA receptor-mediated hippocampal spike timing-dependent potentiation by mGluR5Neuropharmacology, 63
Philosophical Transactions of the Royal Society B Biological Sciences – Unpaywall
Published: Jan 5, 2014
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