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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. Leblond CS, et al. Among authors: proepper c. PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. PLoS Genet. 2012. PMID: 22346768 Free PMC article.
Identification and functional characterization of rare SHANK2 variants in schizophrenia.
Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen MM, Boeckers TM, Rietschel M, Rappold GA. Peykov S, et al. Among authors: proepper c. Mol Psychiatry. 2015 Dec;20(12):1489-98. doi: 10.1038/mp.2014.172. Epub 2015 Jan 6. Mol Psychiatry. 2015. PMID: 25560758 Free PMC article.
Shank2/3 double knockout-based screening of cortical subregions links the retrosplenial area to the loss of social memory in autism spectrum disorders.
Garrido D, Beretta S, Grabrucker S, Bauer HF, Bayer D, Sala C, Verpelli C, Roselli F, Bockmann J, Proepper C, Catanese A, Boeckers TM. Garrido D, et al. Among authors: proepper c. Mol Psychiatry. 2022 Dec;27(12):4994-5006. doi: 10.1038/s41380-022-01756-8. Epub 2022 Sep 13. Mol Psychiatry. 2022. PMID: 36100669 Free PMC article.
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. Grabrucker AM, et al. Among authors: proepper c. EMBO J. 2011 Feb 2;30(3):569-81. doi: 10.1038/emboj.2010.336. Epub 2011 Jan 7. EMBO J. 2011. PMID: 21217644 Free PMC article.
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