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Select item 102374221.

TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing

Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan

Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233

PMCID:: PMC10237422

Abstract Article PDF–23M

Select item 92665992.

ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration

Haiyan Yang, Hongmei Liao, Siyi Gan, Ting Xiao, Liwen Wu

Mol Genet Genomic Med. 2022 Jul; 10(7): e1967. Published online 2022 May 31. doi: 10.1002/mgg3.1967

PMCID:: PMC9266599

Abstract Article PDF–606K

Select item 90954873.

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABA_A receptor α2 subunit

Dustin J. Hines, April Contreras, Betsua Garcia, Jeffrey S. Barker, Austin J. Boren, Christelle Moufawad El Achkar, Stephen J. Moss, Rochelle M. Hines

Mol Psychiatry. 2022; 27(3): 1729–1741. Published online 2022 Feb 15. doi: 10.1038/s41380-022-01468-z

PMCID:: PMC9095487

Abstract Article PDF–5.0M

Select item 88421654.

CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system

Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar

Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629

PMCID:: PMC8842165

Abstract Article PDF–3.0M

Select item 71699835.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 67575836.

Activation of Rac GTPase by p75 Is Necessary for c-jun N-Terminal Kinase-Mediated Apoptosis

Anthony W. Harrington, Ju Young Kim, Sung Ok Yoon

J Neurosci. 2002 Jan 1; 22(1): 156–166. doi: 10.1523/JNEUROSCI.22-01-00156.2002

PMCID:: PMC6757583

Abstract Article PDF–582K

Select item 67468227.

The RNA-mediated estrogen receptor α interactome of hormone-dependent human breast cancer cell nuclei

Giovanni Nassa, Giorgio Giurato, Annamaria Salvati, Valerio Gigantino, Giovanni Pecoraro, Jessica Lamberti, Francesca Rizzo, Tuula A. Nyman, Roberta Tarallo, Alessandro Weisz

Sci Data. 2019; 6: 173. Published online 2019 Sep 16. doi: 10.1038/s41597-019-0179-2

PMCID:: PMC6746822

Abstract Article PDF–2.0M

Select item 67292148.

The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering

Kirsten Harvey, Ian C. Duguid, Melissa J. Alldred, Sarah E. Beatty, Hamish Ward, Nicholas H. Keep, Sue E. Lingenfelter, Brian R. Pearce, Johan Lundgren, Michael J. Owen, Trevor G. Smart, Bernhard Lüscher, Mark I. Rees, Robert J. Harvey

J Neurosci. 2004 Jun 23; 24(25): 5816–5826. doi: 10.1523/JNEUROSCI.1184-04.2004

PMCID:: PMC6729214

Abstract Article PDF–44M

Select item 61666829.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

Select item 549522510.

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing

Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114

PMCID:: PMC5495225

Abstract Article PDF–1.3M

Select item 544678211.

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

Michael Alber, Vera M. Kalscheuer, Elysa Marco, Elliott Sherr, Gaetan Lesca, Marianne Till, Gyri Gradek, Antje Wiesener, Christoph Korenke, Sandra Mercier, Felicitas Becker, Toshiyuki Yamamoto, Stephen W. Scherer, Christian R. Marshall, Susan Walker, Usha R. Dutta, Ashwin B. Dalal, Vanessa Suckow, Payman Jamali, Kimia Kahrizi, Hossein Najmabadi, Berge A. Minassian

Neurol Genet. 2017 Jun; 3(3): e148. Published online 2017 May 26. doi: 10.1212/NXG.0000000000000148

PMCID:: PMC5446782

Abstract Article PDF–330K

Select item 484876212.

Pooled‐matrix protein interaction screens using Barcode Fusion Genetics

Nozomu Yachie, Evangelia Petsalaki, Joseph C Mellor, Jochen Weile, Yves Jacob, Marta Verby, Sedide B Ozturk, Siyang Li, Atina G Cote, Roberto Mosca, Jennifer J Knapp, Minjeong Ko, Analyn Yu, Marinella Gebbia, Nidhi Sahni, Song Yi, Tanya Tyagi, Dayag Sheykhkarimli, Jonathan F Roth, Cassandra Wong, Louai Musa, Jamie Snider, Yi‐Chun Liu, Haiyuan Yu, Pascal Braun, Igor Stagljar, Tong Hao, Michael A Calderwood, Laurence Pelletier, Patrick Aloy, David E Hill, Marc Vidal, Frederick P Roth

Mol Syst Biol. 2016 Apr; 12(4): 863. Published online 2016 Apr 23. doi: 10.15252/msb.20156660

PMCID:: PMC4848762

Abstract Article PDF–2.8M

Select item 479522813.

Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism

Camila Oliveira Freitas Machado, Karina Griesi-Oliveira, Carla Rosenberg, Fernando Kok, Stephanie Martins, Maria Rita Passos-Bueno, Andrea Laurato Sertie

Eur J Hum Genet. 2016 Jan; 24(1): 59–65. Published online 2015 Apr 22. doi: 10.1038/ejhg.2015.69

PMCID:: PMC4795228

Abstract Article PDF–1.6M

Select item 437548114.

Lipid Binding Defects and Perturbed Synaptogenic Activity of a Collybistin R290H Mutant That Causes Epilepsy and Intellectual Disability

Theofilos Papadopoulos, Rudolf Schemm, Helmut Grubmüller, Nils Brose

J Biol Chem. 2015 Mar 27; 290(13): 8256–8270. Published online 2015 Feb 12. doi: 10.1074/jbc.M114.633024

PMCID:: PMC4375481

Abstract Article PDF–3.8M

Select item 387075015.

Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission

Simone Mayer, Rohit Kumar, Mamta Jaiswal, Tolga Soykan, Mohammad Reza Ahmadian, Nils Brose, Heinrich Betz, Jeong-Seop Rhee, Theofilos Papadopoulos

Proc Natl Acad Sci U S A. 2013 Dec 17; 110(51): 20795–20800. Published online 2013 Dec 2. doi: 10.1073/pnas.1309078110

PMCID:: PMC3870750

Abstract Article PDF–1.3M

Select item 362114516.

A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation

Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Celine Fuchs, Eloisa Carta, Emma Deas, Kanamarlapudi Venkateswarlu, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans-Hilger Ropers, Kirsten Harvey, Robert J. Harvey

Hum Mutat. Author manuscript; available in PMC 2013 Apr 9.

Published in final edited form as: Hum Mutat. 2009 Jan; 30(1): 61–68. doi: 10.1002/humu.20814