| 1 | DEL22Q.13, GRAMD4, SHANK3
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| Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13
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| Sarasua SM, DeLuca JM, Rogers C, Phelan K, Rennert L, Powder KE, Weisensee K, Boccuto L.
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| Genes (Basel). Feb 21;14(3):540. doi: 10.3390/genes14030540. 2023
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| 2 | LZTS3, SHANK3
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| The Shank3 Interaction Partner ProSAPiP1 Regulates Postsynaptic SPAR Levels and the Maturation of Dendritic Spines in Hippocampal Neurons.
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| Reim D, Weis TM, Halbedl S, Delling JP, Grabrucker AM, Boeckers TM, Schmeisser MJ.
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| Front Synaptic Neurosci 8:13. doi: 10.3389/fnsyn.2016.00013. eCollection 2016.
2016
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| 3 | SHANK1, SHANK2, SHANK3
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| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
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| Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, Ey E, Toro R, Peyre H, Mathieu A, Amsellem F, Rastam M, Gillberg IC, Rappold GA, Holt R, Monaco AP, Maestrini E, Galan P, Heron D, Jacquette A, Afenjar A, Rastetter A, Brice A, Devillard F, Assouline B, Laffargue F, Lespinasse J, Chiesa J, Rivier F, Bonneau D, Regnault B, Zelenika D, Delepine M, Lathrop M, Sanlaville D, Schluth-Bolard C, Edery P, Perrin L, Tabet AC, Schmeisser MJ, Boeckers TM, Coleman M, Sato D, Szatmari P, Scherer SW, Rouleau GA, Betancur C, Leboyer M, Gillberg C, Delorme R, Bourgeron T.
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| PLoS Genet 10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep.
2014
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| 4 | SHANK3
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| Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice.
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| Wang X, Xu Q, Bey AL, Lee Y, Jiang YH.
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| Mol Autism 5:30. doi: 10.1186/2040-2392-5-30. eCollection 2014.
2014
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| 5 | SHANK3
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| The PSD protein ProSAP2/Shank3 displays synapto-nuclear shuttling which is deregulated in a schizophrenia-associated mutation.
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| Grabrucker S, Proepper C, Mangus K, Eckert M, Chhabra R, Schmeisser MJ, Boeckers TM, Grabrucker AM.
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| Exp Neurol 253:126-37. doi: 10.1016/j.expneurol.2013.12.015. Epub 2013 Dec 29.
2014
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| 6 | SHANK2, SHANK3
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| Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders.
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| Grabrucker S, Jannetti L, Eckert M, Gaub S, Chhabra R, Pfaender S, Mangus K, Reddy PP, Rankovic V, Schmeisser MJ, Kreutz MR, Ehret G, Boeckers TM, Grabrucker AM.
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| Brain 137(Pt 1):137-52. doi: 10.1093/brain/awt303. Epub 2013 Nov 25.
2014
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| 7 | SHANK3
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| Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.
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| Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH.
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| Hum Mol Genet 23(6):1563-78. doi: 10.1093/hmg/ddt547. Epub 2013 Nov 1.
2014
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| 8 | AUTS20, SHANK3
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| SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region.
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| Mameza MG, Dvoretskova E, Bamann M, Hönck HH, Güler T, Boeckers TM, Schoen M, Verpelli C, Sala C, Barsukov I, Dityatev A, Kreienkamp HJ.
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| J Biol Chem 288(37):26697-708. doi: 10.1074/jbc.M112.424747. Epub 2013 Jul 29.
2013
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| 9 | SHANK3
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| Loss of predominant Shank3 isoforms results in hippocampus-dependent impairments in behavior and synaptic transmission.
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| Kouser M, Speed HE, Dewey CM, Reimers JM, Widman AJ, Gupta N, Liu S, Jaramillo TC, Bangash M, Xiao B, Worley PF, Powell CM.
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| J Neurosci 33(47):18448-68. doi: 10.1523/JNEUROSCI.3017-13.2013.
2013
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| 10 | SHANK3
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| Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
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| Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE.
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| Eur J Hum Genet 21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15.
2013
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| 11 | SHANK3
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| SHANK3 as an autism spectrum disorder-associated gene.
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| Uchino S, Waga C.
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| Brain Dev 35(2):106-10. doi: 10.1016/j.braindev.2012.05.013. Epub 2012 Jun 29. Review.
2013
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| 12 | SHANK3
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| Autism-associated mutations in ProSAP2/Shank3 impair synaptic transmission and neurexin-neuroligin-mediated transsynaptic signaling.
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| Arons MH, Thynne CJ, Grabrucker AM, Li D, Schoen M, Cheyne JE, Boeckers TM, Montgomery JM, Garner CC.
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| J Neurosci 32(43):14966-78. doi: 10.1523/JNEUROSCI.2215-12.2012.
2012
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| 13 | SHANK3
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| SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.
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| Durand CM, Perroy J, Loll F, Perrais D, Fagni L, Bourgeron T, Montcouquiol M, Sans N.
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| Mol Psychiatry 17(1):71-84. doi: 10.1038/mp.2011.57. Epub 2011 May 24.
2012
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| 14 | DEL22Q13, SHANK3
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| Shank3 mutant mice display autistic-like behaviours and striatal dysfunction.
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| Peça J, Feliciano C, Ting JT, Wang W, Wells MF, Venkatraman TN, Lascola CD, Fu Z, Feng G.
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| Nature 472(7344):437-42. Epub 2011 Mar 20.
2011
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| 15 | NSMR2, SHANK3, SYNGAP1
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| Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL.
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| Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
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| Am J Hum Genet 88(3):306-16. 2011
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| 16 | AUTS20, DEL22Q13, HOMER1, SHANK3
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| Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism.
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| Bangash MA, Park JM, Melnikova T, Wang D, Jeon SK, Lee D, Syeda S, Kim J, Kouser M, Schwartz J, Cui Y, Zhao X, Speed HE, Kee SE, Tu JC, Hu JH, Petralia RS, Linden DJ, Powell CM, Savonenko A, Xiao B, Worley PF.
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| Cell 145(5):758-72. Epub 2011 May 12. 2011
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| 17 | DEL22Q13, SHANK3
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| Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.
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| Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.
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| PLoS Genet 7(7):e1002173. Epub 2011 Jul 14.
2011
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| 18 | GRM5, SHANK3
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| Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses.
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| Verpelli C, Dvoretskova E, Vicidomini C, Rossi F, Chiappalone M, Schoen M, Di Stefano B, Mantegazza R, Broccoli V, Böckers TM, Dityatev A, Sala C.
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| J Biol Chem 286(40):34839-50. doi: 10.1074/jbc.M111.258384. Epub 2011 Jul 27.
2011
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| 19 | LZTS3, SHANK3
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| Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies.
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| Grabrucker AM, Schmeisser MJ, Schoen M, Boeckers TM.
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| Trends Cell Biol 21(10):594-603. doi: 10.1016/j.tcb.2011.07.003. Epub 2011 Aug 15. Review.
2011
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| 20 | DEL22Q13, SHANK3
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| 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH.
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| Dhar SU, Del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoio T.
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| Am J Med Genet A 152A(3):573-81.PMID: 20186804 2010
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| 21 | SHANK3
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| De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
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| Gauthier J, Champagne N, Lafrenière RG, Xiong L, Spiegelman D, Brustein E, Lapointe M, Peng H, Côté M, Noreau A, Hamdan FF, Addington AM, Rapoport JL, Delisi LE, Krebs MO, Joober R, Fathalli F, Mouaffak F, Haghighi AP, Néri C, Dubé MP, Samuels ME, Marineau C, Stone EA, Awadalla P, Barker PA, Carbonetto S, Drapeau P, Rouleau GA; S2D Team.
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| Proc Natl Acad Sci U S A 107(17):7863-8. Epub 2010 Apr 12.
2010
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| 22 | SHANK3
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| Novel de novo SHANK3 mutation in autistic patients.
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| Gauthier J, Spiegelman D, Piton A, Lafrenière RG, Laurent S, St-Onge J, Lapointe L, Hamdan FF, Cossette P, Mottron L, Fombonne E, Joober R, Marineau C, Drapeau P, Rouleau GA.
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| Am J Med Genet B Neuropsychiatr Genet 150B(3):421-4.
2009
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| 23 | FMR1, SHANK1, SHANK2, SHANK3
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| Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
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| Schütt J, Falley K, Richter D, Kreienkamp HJ, Kindler S.
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| J Biol Chem 284(38):25479-87. Epub 2009 Jul 28.PMID: 19640847 2009
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| 24 | SHANK1, SHANK2, SHANK3
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| Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region.
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| Falley K, Schütt J, Iglauer P, Menke K, Maas C, Kneussel M, Kindler S, Wouters FS, Richter D, Kreienkamp HJ.
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| Traffic 10(7):844-57. Epub 2009 Apr 11.
2009
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| 25 | ANKRD11, DEL15Q24, DEL16P112P, DELXP22, DPP10, DPP6, DPYD, NLGN4, NLGN4X, NRXN1, PCDH9, PTCHD1, SHANK3
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| Structural variation of chromosomes in autism spectrum disorder.
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| Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.
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| Am J Hum Genet 82(2):477-88. Epub 2008 Jan 17. 2008
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| 26 | DEL22Q13, SHANK3
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| Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.
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| Wilson HL, Crolla JA, Walker D, Artifoni L, Dallapiccola B, Takano T, Vasudevan P, Huang S, Maloney V, Yobb T, Quarrell O, McDermid HE.
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| Eur J Hum Genet 16(11):1301-10. Epub 2008 Jun 4.
2008
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| 27 | AUTS20, DEL22Q13, SHANK3
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| Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
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| Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Roge B, Heron D, Burglen L, Gillberg C, Leboyer M, Bourgeron T.
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| Nat Genet 39(1):25-7. Epub 2006 Dec 17. 2007
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| 28 | AUTS20, NLGN, NLGN4X, NRXN1, RPL10, SHANK3
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| Contribution of SHANK3 Mutations to Autism Spectrum Disorder.
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| Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW.
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| Am J Hum Genet 81(6):1289-97. Epub 2007 Oct 16. 2007
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| 29 | DUP22Q13, SHANK3
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| 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?
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| Okamoto N, Kubota T, Nakamura Y, Murakami R, Nishikubo T, Tanaka I, Takahashi Y, Hayashi S, Imoto I, Inazawa J, Hosokai N, Kohsaka S, Uchino S.
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| Am J Med Genet A 143(23):2804-9. 2007
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| 30 | SHANK3
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| 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.
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| Uchino S, Wada H, Honda S, Nakamura Y, Ondo Y, Uchiyama T, Tsutsumi M, Suzuki E, Hirasawa T, Kohsaka S.
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| J Neurochem 97(4):1203-14. Epub 2006 Apr 5. 2006
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| 31 | SHANK3
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| Epigenome analyses using BAC microarrays identify evolutionary conservation of tissue-specific methylation of SHANK3.
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| Ching TT, Maunakea AK, Jun P, Hong C, Zardo G, Pinkel D, Albertson DG, Fridlyand J, Mao JH, Shchors K, Weiss WA, Costello JF.
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| Nat Genet 37(6):645-51. Epub 2005 May 15. 2005
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| 32 | DEL22Q13, SHANK3
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| Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.
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| Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE.
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| J Med Genet 40(8):575-84. 2003
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| 33 | SHANK1, SHANK2, SHANK3, SHARPIN
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| Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins.
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| Lim S, Sala C, Yoon J, Park S, Kuroda S, Sheng M, Kim E.
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| Mol Cell Neurosci 17(2):385-97. 2001
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| 34 | DEL22Q13, SHANK3, APPL2
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| Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
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| Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A,Zuffardi O.
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| Am J Hum Genet 69(2):261-8. Epub 2001 Jun 18. 2001
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| 35 | SHANK1, SHANK2, SHANK3
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| Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development.
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| Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M, Kim E.
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| J Biol Chem 274(41):29510-8. 1999
|