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Items: 1 to 20 of 87

1.
Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids
Rebecca Sebastian, Kang Jin, Narciso Pavon, Ruby Bansal, Andrew Potter, Yoonjae Song, Juliana Babu, Rafael Gabriel, Yubing Sun, Bruce Aronow, ChangHui Pak
Nat Commun. 2023; 14: 3770. Published online 2023 Jun 24. doi: 10.1038/s41467-023-39420-6
PMCID:
PMC10290702
AbstractArticlePDF–4.3M
2.
Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure
Raina Rhoades, Brianna Henry, Dominique Prichett, Yayin Fang, Shaolei Teng
Genes (Basel) 2022 May; 13(5): 789. Published online 2022 Apr 28. doi: 10.3390/genes13050789
PMCID:
PMC9141173
AbstractArticlePDF–1.8M
3.
Neurexin 1 variants as risk factors for suicide death
Nancy William, Carsten Reissner, Robert Sargent, Todd M. Darlington, Emily DiBlasi, Qingqin S. Li, Brooks Keeshin, William B. Callor, Elliott Ferris, Leslie Jerominski, Ken R. Smith, Erik D. Christensen, Douglas M. Gray, Nicola J. Camp, Markus Missler, Megan E. Williams, Hilary Coon
Mol Psychiatry. 2021; 26(12): 7436–7445. Published online 2021 Jun 25. doi: 10.1038/s41380-021-01190-2
PMCID:
PMC8709873
AbstractArticlePDF–4.2M
4.
RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma
Elizabeth Ann Roundhill, Mariona Chicon-Bosch, Lee Jeys, Michael Parry, Kenneth S Rankin, Alastair Droop, Susan Ann Burchill
Cell Oncol (Dordr) 2021; 44(5): 1065–1085. Published online 2021 Aug 17. doi: 10.1007/s13402-021-00619-8
PMCID:
PMC8516792
AbstractArticlePDF–5.2M
5.
Copy number variants in neurexin genes: phenotypes and mechanisms
Marc V Fuccillo, ChangHui Pak
Curr Opin Genet Dev. Author manuscript; available in PMC 2021 Oct 5.
Published in final edited form as: Curr Opin Genet Dev. 2021 Jun; 68: 64–70. Published online 2021 Mar 21. doi: 10.1016/j.gde.2021.02.010
PMCID:
PMC8491281
AbstractArticlePDF–712K
6.
NRXN1α+/- is associated with increased excitability in ASD iPSC-derived neurons
Sahar Avazzadeh, Leo R. Quinlan, Jamie Reilly, Katya McDonagh, Amirhossein Jalali, Yanqin Wang, Veronica McInerney, Janusz Krawczyk, Yicheng Ding, Jacqueline Fitzgerald, Matthew O’Sullivan, Eva B. Forman, Sally A. Lynch, Sean Ennis, Niamh Feerick, Richard Reilly, Weidong Li, Xu Shen, Guangming Yang, Yin Lu, Hilde Peeters, Peter Dockery, Timothy O’Brien, Sanbing Shen, Louise Gallagher
BMC Neurosci. 2021; 22: 56. Published online 2021 Sep 15. doi: 10.1186/s12868-021-00661-0
PMCID:
PMC8442436
AbstractArticlePDF–1.6M
7.
Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons
ChangHui Pak, Tamas Danko, Vincent R. Mirabella, Jinzhao Wang, Yingfei Liu, Madhuri Vangipuram, Sarah Grieder, Xianglong Zhang, Thomas Ward, Yu-Wen Alvin Huang, Kang Jin, Philip Dexheimer, Eric Bardes, Alexis Mitelpunkt, Junyi Ma, Michael McLachlan, Jennifer C. Moore, Pingping Qu, Carolin Purmann, Jeffrey L. Dage, Bradley J. Swanson, Alexander E. Urban, Bruce J. Aronow, Zhiping P. Pang, Douglas F. Levinson, Marius Wernig, Thomas C. Südhof
Proc Natl Acad Sci U S A. 2021 Jun 1; 118(22): e2025598118. Published online 2021 May 25. doi: 10.1073/pnas.2025598118
PMCID:
PMC8179243
AbstractArticlePDF–4.9M
8.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
Cinzia Cameli, Marta Viggiano, Magali J. Rochat, Alessandra Maresca, Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Pamela Magini, Renée C. Duardo, Fabiola Ceroni, Maria C. Scaduto, Annio Posar, Marco Seri, Valerio Carelli, Paola Visconti, Elena Bacchelli, Elena Maestrini
J Cell Mol Med. 2021 Mar; 25(5): 2459–2470. Published online 2021 Jan 21. doi: 10.1111/jcmm.16161
PMCID:
PMC7933976
AbstractArticlePDF–1013K
9.
Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation
Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen
Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2
PMCID:
PMC7863430
AbstractArticlePDF–6.5M
10.
Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia
Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, Hisashi Mori, Hiroki Kimura, Toshiya Inada, Yuko Okahisa, Jun Egawa, Masahide Usami, Itaru Kushima, Mako Morikawa, Takashi Okada, Masashi Ikeda, Aleksic Branko, Daisuke Mori, Toshiyuki Someya, Nakao Iwata, Norio Ozaki
J Neurodev Disord. 2020; 12: 25. Published online 2020 Sep 17. doi: 10.1186/s11689-020-09325-2
PMCID:
PMC7496212
AbstractArticlePDF–3.8M
11.
Neuronal impact of patient-specific aberrant NRXN1α splicing
Erin Flaherty, Shijia Zhu, Natalie Barretto, Esther Cheng, Michael Peter Deans, Michael Fernando, Nadine Schrode, Nancy Francoeur, Alesia Antoine, Khaled Alganem, Madeline Halpern, Gintaras Deikus, Hardik Shah, Megan Fitzgerald, Ian Ladran, Peter Gochman, Judith Rapoport, Nadejda Tsankova, Robert Mccullumsmith, Gabriel E. Hoffman, Robert Sebra, Gang Fang, Kristen J. Brennand
Nat Genet. Author manuscript; available in PMC 2020 Aug 27.
Published in final edited form as: Nat Genet. 2019 Dec; 51(12): 1679–1690. Published online 2019 Nov 29. doi: 10.1038/s41588-019-0539-z
PMCID:
PMC7451045
AbstractArticlePDF–8.2M
12.
NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis
Ney Alliey-Rodriguez, Tamar A. Grey, Rebecca Shafee, Huma Asif, Olivia Lutz, Nicolas R. Bolo, Jaya Padmanabhan, Neeraj Tandon, Madeline Klinger, Katherine Reis, Jonathan Spring, Lucas Coppes, Victor Zeng, Rachal R. Hegde, Dung T. Hoang, Deepthi Bannai, Uzma Nawaz, Philip Henson, Siyuan Liu, Diane Gage, Steven McCarroll, Jeffrey R. Bishop, Scot Hill, James L. Reilly, Rebekka Lencer, Brett A. Clementz, Peter Buckley, David C. Glahn, Shashwath A. Meda, Balaji Narayanan, Godfrey Pearlson, Matcheri S. Keshavan, Elena I. Ivleva, Carol Tamminga, John A. Sweeney, David Curtis, Judith A. Badner, Sarah Keedy, Judith Rapoport, Chunyu Liu, Elliot S. Gershon
Transl Psychiatry. 2019; 9: 230. Published online 2019 Sep 17. doi: 10.1038/s41398-019-0564-9
PMCID:
PMC6748921
AbstractArticlePDF–985K
13.
Structure and Evolution of Neurexophilin
Alexander G. Petrenko, Beate Ullrich, Markus Missler, Valery Krasnoperov, Thomas W. Rosahl, Thomas C. Südhof
J Neurosci. 1996 Jul 15; 16(14): 4360–4369. doi: 10.1523/JNEUROSCI.16-14-04360.1996
PMCID:
PMC6578849
AbstractArticlePDF–975K
14.
CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins
Y Hata, S Butz, TC Sudhof
J Neurosci. 1996 Apr 15; 16(8): 2488–2494. doi: 10.1523/JNEUROSCI.16-08-02488.1996
PMCID:
PMC6578772
AbstractPDF–3.2M
15.
A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function
Amy Y. Lin, Shawna Henry, Carsten Reissner, Christian Neupert, Connor Kenny, Markus Missler, Uwe Beffert, Angela Ho
Sci Rep. 2019; 9: 6024. Published online 2019 Apr 15. doi: 10.1038/s41598-019-42635-7
PMCID:
PMC6465354
AbstractArticlePDF–4.5M
16.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J. M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan
Genet Med. 2019; 21(4): 816–825. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0266-3
PMCID:
PMC6405313
AbstractArticlePDF–1012K
17.
Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction
Leslie E. W. LaConte, Vrushali Chavan, Abdallah F. Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherjee
Hum Genet. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: Hum Genet. 2018 Mar; 137(3): 231–246. Published online 2018 Feb 9. doi: 10.1007/s00439-018-1874-3
PMCID:
PMC6391276
AbstractArticlePDF–997K
18.
Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression
Anne M. Rochtus, Sara Trowbridge, Richard D. Goldstein, Beth Rosen Sheidley, Sanjay P. Prabhu, Robin Haynes, Hannah C. Kinney, Annapurna H. Poduri
Cold Spring Harb Mol Case Stud. 2019 Feb; 5(1): a003442. doi: 10.1101/mcs.a003442
PMCID:
PMC6371743
AbstractArticlePDF–9.2M
19.
Structural plasticity of neurexin 1α: implications for its role as synaptic organizer.
Jianfang Liu, Anurag Misra, Sekhar Reddy, Mark Andrew White, Gang Ren, Gabby Rudenko
J Mol Biol. Author manuscript; available in PMC 2019 Oct 19.
Published in final edited form as: J Mol Biol. 2018 Oct 19; 430(21): 4325–4343. Published online 2018 Sep 5. doi: 10.1016/j.jmb.2018.08.026
PMCID:
PMC6223652
AbstractArticlePDF–2.7M
20.
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
AbstractArticlePDF–3.8M

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