Citations for
1SHANK1, SHANK2, SHANK3
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
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.
PLoS Genet 10(9):e1004580. doi: 10.1371/journal.pgen.1004580. eCollection 2014 Sep. 2014
2SHANK2, SHANK3
Zinc deficiency dysregulates the synaptic ProSAP/Shank scaffold and might contribute to autism spectrum disorders.
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.
Brain 137(Pt 1):137-52. doi: 10.1093/brain/awt303. Epub 2013 Nov 25. 2014
3PACSIN1, SHANK2
ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function.
Schneider K, Seemann E, Liebmann L, Ahuja R, Koch D, Westermann M, Hübner CA, Kessels MM, Qualmann B.
J Cell Biol 205(2):197-215. doi: 10.1083/jcb.201307088. Epub 2014 Apr 21. 2014
4CFTR, SGK1, SHANK2
Serum- and glucocorticoid-induced protein kinase 1 (SGK1) increases the cystic fibrosis transmembrane conductance regulator (CFTR) in airway epithelial cells by phosphorylating Shank2E protein.
Koeppen K, Coutermarsh BA, Madden DR, Stanton BA.
J Biol Chem 289(24):17142-50. doi: 10.1074/jbc.M114.555599. Epub 2014 May 8. 2014
5FMR1, SHANK2
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Berkel S, Tang W, Treviño M, Vogt M, Obenhaus HA, Gass P, Scherer SW, Sprengel R, Schratt G, Rappold GA.
Hum Mol Genet 21(2):344-57. doi: 10.1093/hmg/ddr470. Epub 2011 Oct 12. 2012
6SHANK2
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck St, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM.
Nature 486(7402):256-60. doi: 10.1038/nature11015. 2012
7SHANK2
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T.
PLoS Genet 8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. 2012
8SHANK2
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Schmeisser MJ, Ey E, Wegener S, Bockmann J, Stempel AV, Kuebler A, Janssen AL, Udvardi PT, Shiban E, Spilker C, Balschun D, Skryabin BV, Dieck St, Smalla KH, Montag D, Leblond CS, Faure P, Torquet N, Le Sourd AM, Toro R, Grabrucker AM, Shoichet SA, Schmitz D, Kreutz MR, Bourgeron T, Gundelfinger ED, Boeckers TM.
Nature 486(7402):256-60. doi: 10.1038/nature11015. 2012
9SHANK2
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.
Won H, Lee HR, Gee HY, Mah W, Kim JI, Lee J, Ha S, Chung C, Jung ES, Cho YS, Park SG, Lee JS, Lee K, Kim D, Bae YC, Kaang BK, Lee MG, Kim E.
Nature 486(7402):261-5. doi: 10.1038/nature11208. 2012
10SHANK2
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation.
Grabrucker AM, Knight MJ, Proepper C, Bockmann J, Joubert M, Rowan M, Nienhaus GU, Garner CC, Bowie JU, Kreutz MR, Gundelfinger ED, Boeckers TM.
EMBO J 30(3):569-81. doi: 10.1038/emboj.2010.336. Epub 2011 Jan 7. 2011
11ARHGEF7, SHANK2, SLC9A3
BetaPix up-regulates Na+/H+ exchanger 3 through a Shank2-mediated protein-protein interaction.
Lee JS, Lee YM, Kim JY, Park HW, Grinstein S, Orlowski J, Kim E, Kim KH, Lee MG.
J Biol Chem 285(11):8104-13. Epub 2010 Jan 14.PMID: 20080968 2010
12AUTS17, SHANK2
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.
Nat Genet 42(6):489-91. Epub 2010 May 16.PMID: 20473310 2010
13SHANK1, SHANK2
Activity induced changes in the distribution of Shanks at hippocampal synapses.
Tao-Cheng JH, Dosemeci A, Gallant PE, Smith C, Reese T.
Neuroscience 168(1):11-7. Epub 2010 Mar 25.PMID: 20347015 2010
14SHANK2, SLC34A1
Shank2 redistributes with NaPilla during regulated endocytosis.
Dobrinskikh E, Giral H, Caldas YA, Levi M, Doctor RB.
Am J Physiol Cell Physiol 299(6):C1324-34. doi: 10.1152/ajpcell.00183.2010. Epub 2010 Sep 1. 2010
15FMR1, SHANK1, SHANK2, SHANK3
Fragile X mental retardation protein regulates the levels of scaffold proteins and glutamate receptors in postsynaptic densities.
Schütt J, Falley K, Richter D, Kreienkamp HJ, Kindler S.
J Biol Chem 284(38):25479-87. Epub 2009 Jul 28.PMID: 19640847 2009
16SHANK2
Shank 2 expression coincides with neuronal differentiation in the developing retina.
Kim JH, Kim JH, Yang E, Park JH, Yu YS, Kim KW.
Exp Mol Med 41(4):236-42.PMID: 19299912 [ 2009
17SHANK1, SHANK2, SHANK3
Shank1 mRNA: dendritic transport by kinesin and translational control by the 5'untranslated region.
Falley K, Schütt J, Iglauer P, Menke K, Maas C, Kneussel M, Kindler S, Wouters FS, Richter D, Kreienkamp HJ.
Traffic 10(7):844-57. Epub 2009 Apr 11. 2009
18CCND1, ORAOV1, CTTN, SHANK2, FGF3
Recurrent coamplification of cytoskeleton-associated genes EMS1 and SHANK2 with CCND1 in oral squamous cell carcinoma.
Freier K, Sticht C, Hofele C, Flechtenmacher C, Stange D, Puccio L, Toedt G, Radlwimmer B, Lichter P, Joos S.
Genes Chromosomes Cancer 45(2):118-25. 2006
19SHANK2, SLC9A3
Shank2 associates with and regulates Na+/H+ exchanger 3.
Han W, Kim KH, Jo MJ, Lee JH, Yang J, Doctor RB, Moe OW, Lee J, Kim E, Lee MG.
J Biol Chem 281(3):1461-9. Epub 2005 Nov 17.PMID: 16293618 2006
20SHANK1, SHANK2, SHANK3, SHARPIN
Sharpin, a novel postsynaptic density protein that directly interacts with the shank family of proteins.
Lim S, Sala C, Yoon J, Park S, Kuroda S, Sheng M, Kim E.
Mol Cell Neurosci 17(2):385-97. 2001
21SHANK1, SHANK2, SHANK3
Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development.
Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M, Kim E.
J Biol Chem 274(41):29510-8. 1999
22SHANK2
Identification of a novel cortactin SH3 domain-binding protein and its localization to growth cones of cultured neurons.
Du Y, Weed SA, Xiong WC, Marshall TD, Parsons JT.
Mol Cell Biol 18(10):5838-51. 1998