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Items: 1 to 20 of 89

1.
Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs
Inbar Fischer, Sophie Shohat, Yael Leichtmann-Bardoogo, Ritu Nayak, Gal Wiener, Idan Rosh, Aviram Shemen, Utkarsh Tripathi, May Rokach, Ela Bar, Yara Hussein, Ana Carolina Castro, Gal Chen, Adi Soffer, Sari Schokoroy-Trangle, Galit Elad-Sfadia, Yaniv Assaf, Avi Schroeder, Patricia Monteiro, Shani Stern, Ben M. Maoz, Boaz Barak
Sci Adv. 2024 Oct 11; 10(41): eadl4573. Published online 2024 Oct 11. doi: 10.1126/sciadv.adl4573
PMCID:
PMC11468907
AbstractArticlePDF–11M
2.
Combined expansion and STED microscopy reveals altered fingerprints of postsynaptic nanostructure across brain regions in ASD-related SHANK3-deficiency
Jan Philipp Delling, Helen Friedericke Bauer, Susanne Gerlach-Arbeiter, Michael Schön, Christian Jacob, Jan Wagner, Maria Teresa Pedro, Bernd Knöll, Tobias M. Boeckers
Mol Psychiatry. 2024; 29(10): 2997–3009. Published online 2024 Apr 22. doi: 10.1038/s41380-024-02559-9
PMCID:
PMC11449788
AbstractArticlePDF–2.9M
3.
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Nat Commun. 2024; 15: 7909. Published online 2024 Sep 10. doi: 10.1038/s41467-024-52095-x
PMCID:
PMC11387733
AbstractArticlePDF–7.3M
4.
Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes
Xiaona Lu, Pengyu Ni, Paola Suarez-Meade, Yu Ma, Emily Niemitz Forrest, Guilin Wang, Yi Wang, Alfredo Quiñones-Hinojosa, Mark Gerstein, Yong-hui Jiang
Cell Rep. Author manuscript; available in PMC 2024 Aug 16.
Published in final edited form as: Cell Rep. 2024 Jul 23; 43(7): 114376. Published online 2024 Jun 18. doi: 10.1016/j.celrep.2024.114376
PMCID:
PMC11328446
AbstractArticlePDF–4.7M
5.
Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models
Amandine Thibaudeau, Karen Schmitt, Louise François, Laure Chatrousse, David Hoffmann, Loic Cousin, Amélie Weiss, Aurore Vuidel, Christina B. Jacob, Peter Sommer, Alexandra Benchoua, Johannes H. Wilbertz
Transl Psychiatry. 2024; 14: 249. Published online 2024 Jun 10. doi: 10.1038/s41398-024-02947-3
PMCID:
PMC11165012
AbstractArticlePDF–20M
6.
Role of the Autism Risk Gene Shank3 in the Development of Atherosclerosis: Insights from Big Data and Mechanistic Analyses
Hsiu-Wen Chang, Ming-Jen Hsu, Li-Nien Chien, Nai-Fang Chi, Meng-Chieh Yu, Hsiu-Chen Chen, Yuan-Feng Lin, Chaur-Jong Hu
Cells. 2023 Nov; 12(21): 2546. Published online 2023 Oct 30. doi: 10.3390/cells12212546
PMCID:
PMC10647789
AbstractArticlePDF–2.8M
7.
Expression profiles of the autism-related SHANK proteins in the human brain
Sarah Woelfle, Maria T. Pedro, Jan Wagner, Michael Schön, Tobias M. Boeckers
BMC Biol. 2023; 21: 254. Published online 2023 Nov 13. doi: 10.1186/s12915-023-01712-0
PMCID:
PMC10641957
AbstractArticlePDF–4.7M
8.
Drugs prescribed for Phelan-McDermid syndrome differentially impact sensory behaviors in shank3 zebrafish models.
Robert A. Kozol, Julia E. Dallman
Version 2. F1000Res. 2023; 12: 84. Published online 2023 Sep 27. doi: 10.12688/f1000research.127830.2
PMCID:
PMC10589628
AbstractArticlePDF–3.4M
9.
Clustering of CaV1.3 L-type calcium channels by Shank3
Qian Yang, Tyler L. Perfitt, Juliana Quay, Lan Hu, Dorian Lawson-Qureshi, Roger J. Colbran
J Neurochem. Author manuscript; available in PMC 2024 Oct 1.
Published in final edited form as: J Neurochem. 2023 Oct; 167(1): 16–37. Published online 2023 Jun 30. doi: 10.1111/jnc.15880
PMCID:
PMC10543641
AbstractArticlePDF–4.1M
10.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
AbstractArticlePDF–2.6M
11.
YBX1‐Mediated DNA Methylation‐Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia
Peiyan Ni, Chuqing Zhou, Sugai Liang, Youhui Jiang, Dongxin Liu, Zhicheng Shao, Haneul Noh, Liansheng Zhao, Yang Tian, Chengcheng Zhang, Jinxue Wei, Xiaojing Li, Hua Yu, Rongjun Ni, Xueli Yu, Xueyu Qi, Yamin Zhang, Xiaohong Ma, Wei Deng, Wanjun Guo, Qiang Wang, Pak C. Sham, Sangmi Chung, Tao Li
Adv Sci (Weinh) 2023 Jul; 10(20): 2300455. Published online 2023 May 21. doi: 10.1002/advs.202300455
PMCID:
PMC10369273
AbstractArticlePDF–6.6M
12.
Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders
Greta Pintacuda, Yu-Han H. Hsu, Kalliopi Tsafou, Ka Wan Li, Jacqueline M. Martín, Jackson Riseman, Julia C. Biagini, Joshua K.T. Ching, Daya Mena, Miguel A. Gonzalez-Lozano, Shawn B. Egri, Jake Jaffe, August B. Smit, Nadine Fornelos, Kevin C. Eggan, Kasper Lage
Cell Genom. 2023 Mar 8; 3(3): 100250. Published online 2023 Jan 24. doi: 10.1016/j.xgen.2022.100250
PMCID:
PMC10025425
AbstractArticlePDF–22M
13.
SHANK3 in vagal sensory neurons regulates body temperature, systemic inflammation, and sepsis
Linlin Zhang, Sangsu Bang, Qianru He, Megumi Matsuda, Xin Luo, Yong-Hui Jiang, Ru-Rong Ji
Front Immunol. 2023; 14: 1124356. Published online 2023 Feb 8. doi: 10.3389/fimmu.2023.1124356
PMCID:
PMC9944123
AbstractArticlePDF–9.5M
14.
Modeling human telencephalic development and autism-associated SHANK3 deficiency using organoids generated from single neural rosettes
Yueqi Wang, Simone Chiola, Guang Yang, Chad Russell, Celeste J. Armstrong, Yuanyuan Wu, Jay Spampanato, Paisley Tarboton, H. M. Arif Ullah, Nicolas U. Edgar, Amelia N. Chang, David A. Harmin, Vittoria Dickinson Bocchi, Elena Vezzoli, Dario Besusso, Jun Cui, Elena Cattaneo, Jan Kubanek, Aleksandr Shcheglovitov
Nat Commun. 2022; 13: 5688. Published online 2022 Oct 6. doi: 10.1038/s41467-022-33364-z
PMCID:
PMC9537523
AbstractArticlePDF–24M
15.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M
16.
Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation
Minna Kankuri‐Tammilehto, Oili Sauna‐aho, Maria Arvio
Mol Genet Genomic Med. 2021 Dec; 9(12): e1780. Published online 2021 Aug 9. doi: 10.1002/mgg3.1780
PMCID:
PMC8683620
AbstractArticlePDF–342K
17.
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
18.
Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling
Chunxue Liu, Dongyun Li, Haowei Yang, Huiping Li, Qiong Xu, Bingrui Zhou, Chunchun Hu, Chunyang Li, Yi Wang, Zhongwei Qiao, Yong-hui Jiang, Xiu Xu
Prog Neurobiol. Author manuscript; available in PMC 2021 Nov 6.
Published in final edited form as: Prog Neurobiol. 2021 May; 200: 101985. Published online 2020 Dec 31. doi: 10.1016/j.pneurobio.2020.101985
PMCID:
PMC8572121
AbstractArticlePDF–1.8M
19.
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD
Teresa Tavassoli, Christina Layton, Tess Levy, Mikaela Rowe, Julia George-Jones, Jessica Zweifach, Stacey Lurie, Joseph D. Buxbaum, Alexander Kolevzon, Paige M. Siper
Genes (Basel) 2021 Jul; 12(7): 977. Published online 2021 Jun 26. doi: 10.3390/genes12070977
PMCID:
PMC8306746
AbstractArticlePDF–529K
20.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M

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