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Items: 1 to 20 of 25

1.
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Halie J. May, Jaehoon Jeong, Anya Revah-Politi, Julie S. Cohen, Anna Chassevent, Julia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria Teresa Carminho A. Rodrigues, Charles Conlon, Joel Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith-Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane-Yeboa
Genet Med. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: Genet Med. 2021 Oct; 23(10): 1912–1921. Published online 2021 Jun 10. doi: 10.1038/s41436-021-01222-w
PMCID:
PMC8487955
AbstractArticlePDF–1.4M
2.
A Non-Canonical Initiation Site Is Required for Efficient Translation of the Dendritically Localized Shank1 mRNA
Katrin Studtmann, Janin Ölschläger-Schütt, Friedrich Buck, Dietmar Richter, Carlo Sala, Jürgen Bockmann, Stefan Kindler, Hans-Jürgen Kreienkamp
PLoS One. 2014; 9(2): e88518. Published online 2014 Feb 12. doi: 10.1371/journal.pone.0088518
PMCID:
PMC3922875
AbstractArticlePDF–1.4M
3.
A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling
Yue Qin, Yasong Du, Liqiang Chen, Yanyan Liu, Wenjing Xu, Ying Liu, Ying Li, Jing Leng, Yalan Wang, Xiao-Yong Zhang, Jianfeng Feng, Feng Zhang, Li Jin, Zilong Qiu, Xiaohong Gong, Hongyan Wang
Mol Psychiatry. 2022; 27(7): 2985–2998. Published online 2022 Apr 6. doi: 10.1038/s41380-022-01539-1
Correction in:
Mol Psychiatry. 2022; 27(9): 3922.
PMCID:
PMC9205781
AbstractArticlePDF–4.7M
4.
FMRP interacts with G-quadruplex structures in the 3’-UTR of its dendritic target Shank1 mRNA
Yang Zhang, Christian M Gaetano, Kathryn R Williams, Gary J Bassell, Mihaela Rita Mihailescu
RNA Biol. 2014 Nov; 11(11): 1364–1374. Published online 2015 Feb 18. doi: 10.1080/15476286.2014.996464
PMCID:
PMC4615183
AbstractArticlePDF–544K
5.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I. Carina Gillberg, Gudrun A. Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeisser, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
PLoS Genet. 2014 Sep; 10(9): e1004580. Published online 2014 Sep 4. doi: 10.1371/journal.pgen.1004580
PMCID:
PMC4154644
AbstractArticlePDF–2.2M
6.
SHANK1 Deletions in Males with Autism Spectrum Disorder
Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O'Connor, Carolyn Russell, Irene E. Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Rastam, Christopher Gillberg, Mark Lathrop, Dimitri J. Stavropoulos, Evdokia Anagnostou, Rosanna Weksberg, Eric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun A. Rappold, Christian R. Marshall, Thomas Bourgeron, Peter Szatmari, Stephen W. Scherer
Am J Hum Genet. 2012 May 4; 90(5): 879–887. doi: 10.1016/j.ajhg.2012.03.017
PMCID:
PMC3376495
AbstractArticlePDF–303K
7.
SHANK1 facilitates non-small cell lung cancer processes through modulating the ubiquitination of Klotho by interacting with MDM2
Bo Chen, Hongye Zhao, Min Li, Quan She, Wen Liu, Jiayi Zhang, Weihong Zhao, Shuhong Huang, Jianqing Wu
Cell Death Dis. 2022 Apr; 13(4): 403. Published online 2022 Apr 25. doi: 10.1038/s41419-022-04860-3
PMCID:
PMC9039064
AbstractArticlePDF–3.8M
8.
USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels
Meghan Kerrisk Campbell, Morgan Sheng
J Neurosci. 2018 Jun 6; 38(23): 5289–5301. doi: 10.1523/JNEUROSCI.3305-17.2018
PMCID:
PMC6596000
AbstractArticlePDF–1.8M
9.
SHANK3 Gene Mutations Associated with Autism Facilitate Ligand Binding to the Shank3 Ankyrin Repeat Region
Marie Germaine Mameza, Elena Dvoretskova, Margarete Bamann, Hans-Hinrich Hönck, Türkan Güler, Tobias M. Boeckers, Michael Schoen, Chiara Verpelli, Carlo Sala, Igor Barsukov, Alexander Dityatev, Hans-Jürgen Kreienkamp
J Biol Chem. 2013 Sep 13; 288(37): 26697–26708. Published online 2013 Jul 29. doi: 10.1074/jbc.M112.424747
PMCID:
PMC3772216
AbstractArticlePDF–4.1M
10.
Dynamin Isoform-specific Interaction with the Shank/ProSAP Scaffolding Proteins of the Postsynaptic Density and Actin Cytoskeleton
Patricia M. Okamoto, Chantal Gamby, David Wells, Justin Fallon, Richard B. Vallee
J Biol Chem. Author manuscript; available in PMC 2009 Jul 24.
Published in final edited form as: J Biol Chem. 2001 Dec 21; 276(51): 48458–48465. Published online 2001 Oct 2. doi: 10.1074/jbc.M104927200
PMCID:
PMC2715172
AbstractArticlePDF–706K
11.
Ribosomal S6 kinase 2 interacts with and phosphorylates PDZ domain-containing proteins and regulates AMPA receptor transmission
Gareth M. Thomas, Gavin R. Rumbaugh, Dana B. Harrar, Richard L. Huganir
Proc Natl Acad Sci U S A. 2005 Oct 18; 102(42): 15006–15011. Published online 2005 Oct 10. doi: 10.1073/pnas.0507476102
PMCID:
PMC1257731
AbstractArticlePDF–420K
12.
De novo genic mutations among a Chinese autism spectrum disorder cohort
Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Min Long, Janice Lin, Zev N. Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler
Nat Commun. 2016; 7: 13316. Published online 2016 Nov 8. doi: 10.1038/ncomms13316
PMCID:
PMC5105161
AbstractArticlePDF–584K
13.
Cytoplasmic short linear motifs in ACE2 and integrin β3 link SARS-CoV-2 host cell receptors to mediators of endocytosis and autophagy
Johanna Kliche, Hanna Kuss, Muhammad Ali, Ylva Ivarsson
Sci Signal. 2021 Jan 12; 14(665): eabf1117. doi: 10.1126/scisignal.abf1117
PMCID:
PMC7928716
AbstractArticlePDF–1017K
14.
SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras
Johanna Lilja, Thomas Zacharchenko, Maria Georgiadou, Guillaume Jacquemet, Nicola De Franceschi, Emilia Peuhu, Hellyeh Hamidi, Jeroen Pouwels, Victoria Martens, Fatemeh Hassani Nia, Malte Beifuss, Tobias Boeckers, Hans-Juergen Kreienkamp, Igor L Barsukov, Johanna Ivaska
Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 6.
Published in final edited form as: Nat Cell Biol. 2017 Apr; 19(4): 292–305. Published online 2017 Mar 6. doi: 10.1038/ncb3487
PMCID:
PMC5386136
AbstractArticlePDF–3.5M
15.
PDZ-Containing Proteins Targeted by the ACE2 Receptor
Célia Caillet-Saguy, Nicolas Wolff
Viruses. 2021 Nov; 13(11): 2281. Published online 2021 Nov 15. doi: 10.3390/v13112281
PMCID:
PMC8624105
AbstractArticlePDF–754K
16.
Proteome‐wide analysis of phospho‐regulated PDZ domain interactions
Gustav N Sundell, Roland Arnold, Muhammad Ali, Piangfan Naksukpaiboon, Julien Orts, Peter Güntert, Celestine N Chi, Ylva Ivarsson
Mol Syst Biol. 2018 Aug; 14(8): e8129. Published online 2018 Aug 20. doi: 10.15252/msb.20178129
PMCID:
PMC6100724
AbstractArticlePDF–2.4M
17.
BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein
Sadiya Malik, Hiroko Saito, Miho Takaoka, Yoshio Miki, Akira Nakanishi
Cell Cycle. 2016; 15(16): 2145–2156. Published online 2016 Jul 19. doi: 10.1080/15384101.2016.1195531
PMCID:
PMC4993541
AbstractArticlePDF–1.6M
18.
A Human MAP Kinase Interactome
Sourav Bandyopadhyay, Chih-yuan Chiang, Jyoti Srivastava, Merril Gersten, Suhaila White, Russell Bell, Cornelia Kurschner, Christopher H. Martin, Mike Smoot, Sudhir Sahasrabudhe, Diane L. Barber, Sumit K. Chanda, Trey Ideker
Nat Methods. Author manuscript; available in PMC 2011 Apr 1.
Published in final edited form as: Nat Methods. 2010 Oct; 7(10): 801–805. doi: 10.1038/nmeth.1506
PMCID:
PMC2967489
AbstractArticlePDF–1.2M
19.
New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing
Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg
Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6
PMCID:
PMC4367857
AbstractArticlePDF–3.1M
20.
Protein interactome reveals converging molecular pathways among autism disorders
Yasunari Sakai, Chad A. Shaw, Brian C. Dawson, Diana V. Dugas, Zaina Al-Mohtaseb, David E. Hill, Huda Y. Zoghbi
Sci Transl Med. Author manuscript; available in PMC 2011 Dec 8.
Published in final edited form as: Sci Transl Med. 2011 Jun 8; 3(86): 86ra49. doi: 10.1126/scitranslmed.3002166
PMCID:
PMC3169432
AbstractArticlePDF–6.0M

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