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Select item 111650121.

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

Abstract Article PDF–20M

Select item 106477892.

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

Abstract Article PDF–2.8M

Select item 106419573.

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

Abstract Article PDF–4.7M

Select item 105896284.

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

Abstract Article PDF–3.4M

Select item 104998215.

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

Abstract Article PDF–2.6M

Select item 103692736.

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

Abstract Article PDF–6.6M

Select item 100254257.

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

Abstract Article PDF–22M

Select item 99441238.

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

Abstract Article PDF–9.5M

Select item 95375239.

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

Abstract Article PDF–24M

Select item 911973610.

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

Abstract Article PDF–3.3M

Select item 868362011.

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

Abstract Article PDF–342K

Select item 862410512.

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

Abstract Article PDF–754K

Select item 857212113.

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

Abstract Article PDF–1.8M

Select item 830674614.

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

Abstract Article PDF–529K

Select item 816503015.

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

Abstract Article PDF–2.2M

Select item 815236916.

CaMKII Phosphorylation Regulates Synaptic Enrichment of Shank3

Jaehoon Jeong, Yan Li, Katherine W. Roche

eNeuro. 2021 May-Jun; 8(3): ENEURO.0481-20.2021. Prepublished online 2021 Feb 10. Published online 2021 May 22. doi: 10.1523/ENEURO.0481-20.2021

PMCID:: PMC8152369

Abstract Article PDF–1.8M

Select item 790504017.

Molecular Characterization of the Oncogene BTF3 and Its Targets in Colorectal Cancer

Hantao Wang, Junjie Xing, Wei Wang, Guifen Lv, Haiyan He, Yeqing Lu, Mei Sun, Haiyan Chen, Xu Li

Front Cell Dev Biol. 2020; 8: 601502. Published online 2021 Feb 11. doi: 10.3389/fcell.2020.601502

PMCID:: PMC7905040

Abstract Article PDF–3.2M

Select item 770810118.

A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun, Bing Xiao, Yanjie Fan, Xiaomei Luo, Yongkun Zhan, Lili Wang, Fei Li, Yongguo Yu

Orphanet J Rare Dis. 2020; 15: 335. Published online 2020 Nov 30. doi: 10.1186/s13023-020-01592-5

PMCID:: PMC7708101

Abstract Article PDF–1.6M

Select item 753942319.

Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

Shan Li, Ke-wang Xi, Ting Liu, Ying Zhang, Meng Zhang, Li-dong Zeng, Juan Li

BMC Med Genomics. 2020; 13: 146. Published online 2020 Oct 6. doi: 10.1186/s12920-020-00802-0

PMCID:: PMC7539423

Abstract Article PDF–4.4M

Select item 741491220.

A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation

Aline Vitrac, Stéphanie Pons, Marta Balkota, Nathalie Lemière, Célia Raïs, Jean-Pierre Bourgeois, Uwe Maskos, Thomas Bourgeron, Isabelle Cloëz-Tayarani

Sci Rep. 2020; 10: 13315. Published online 2020 Aug 7. doi: 10.1038/s41598-020-70056-4

PMCID:: PMC7414912

Abstract Article PDF–2.7M

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