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Items: 1 to 20 of 22

1.
Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions
Guanhua Bai, Hao Li, Pengwei Qin, Yiqing Guo, Wanfa Yang, Yinmiao Lian, Fei Ye, Jianxin Chen, Meiling Wu, Ruifeng Huang, Jinsong Li, Youming Lu, Mingjie Zhang
J Cell Biol. 2023 Dec 4; 222(12): e202307117. Published online 2023 Oct 3. doi: 10.1083/jcb.202307117
PMCID:
PMC10548395
AbstractArticlePDF–6.9M
2.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Mol Psychiatry. 2023; 28(4): 1747–1769. Published online 2023 Jan 6. doi: 10.1038/s41380-022-01937-5
PMCID:
PMC10208958
AbstractArticlePDF–7.0M
3.
Molecular Insights into IQSEC2 Disease
Nina S. Levy, Veronika Borisov, Orit Lache, Andrew P. Levy
Int J Mol Sci. 2023 Mar; 24(5): 4984. Published online 2023 Mar 5. doi: 10.3390/ijms24054984
PMCID:
PMC10003148
AbstractArticlePDF–549K
4.
Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction
Reem Jada, Veronika Borisov, Eliezer Laury, Shmuel Halpert, Nina S. Levy, Shlomo Wagner, Shai Netser, Randall Walikonis, Ido Carmi, Shai Berlin, Andrew P. Levy
Int J Mol Sci. 2023 Feb; 24(4): 3924. Published online 2023 Feb 15. doi: 10.3390/ijms24043924
PMCID:
PMC9965438
AbstractArticlePDF–1.7M
5.
IQSEC2 Deficiency Results in Abnormal Social Behaviors Relevant to Autism by Affecting Functions of Neural Circuits in the Medial Prefrontal Cortex
Anuradha Mehta, Yoshinori Shirai, Emi Kouyama-Suzuki, Mengyun Zhou, Takahiro Yoshizawa, Toru Yanagawa, Takuma Mori, Katsuhiko Tabuchi
Cells. 2021 Oct; 10(10): 2724. Published online 2021 Oct 12. doi: 10.3390/cells10102724
PMCID:
PMC8534507
AbstractArticlePDF–5.5M
6.
Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation
Renad Jabarin, Nina Levy, Yasmin Abergel, Joshua H. Berman, Amir Zag, Shai Netser, Andrew P. Levy, Shlomo Wagner
Transl Psychiatry. 2021; 11: 234. Published online 2021 Apr 22. doi: 10.1038/s41398-021-01347-1
PMCID:
PMC8062516
AbstractArticlePDF–831K
7.
Structural and functional brain-wide alterations in A350V Iqsec2 mutant mice displaying autistic-like behavior
Daniela Lichtman, Eyal Bergmann, Alexandra Kavushansky, Nadav Cohen, Nina S. Levy, Andrew P. Levy, Itamar Kahn
Transl Psychiatry. 2021; 11: 181. Published online 2021 Mar 22. doi: 10.1038/s41398-021-01289-8
PMCID:
PMC7985214
AbstractArticlePDF–2.0M
8.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
9.
Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease
Megha Sah, Amy N. Shore, Sabrina Petri, Ayla Kanber, Mu Yang, Matthew C. Weston, Wayne N. Frankel
Neurobiol Dis. Author manuscript; available in PMC 2021 Apr 1.
Published in final edited form as: Neurobiol Dis. 2020 Apr; 137: 104758. Published online 2020 Jan 21. doi: 10.1016/j.nbd.2020.104758
PMCID:
PMC7315256
AbstractArticlePDF–1.8M
10.
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica HN Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge
Life Sci Alliance. 2019 Aug; 2(4): e201900386. Published online 2019 Aug 22. doi: 10.26508/lsa.201900386
PMCID:
PMC6706959
AbstractArticlePDF–2.6M
11.
An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors
Eli J. Rogers, Reem Jada, Kinneret Schragenheim-Rozales, Megha Sah, Marisol Cortes, Matthew Florence, Nina S. Levy, Rachel Moss, Randall S. Walikonis, Raz Palty, Reut Shalgi, Daniela Lichtman, Alexandra Kavushansky, Nashaat Z. Gerges, Itamar Kahn, George K. E. Umanah, Andrew P. Levy
Front Mol Neurosci. 2019; 12: 43. Published online 2019 Feb 20. doi: 10.3389/fnmol.2019.00043
PMCID:
PMC6391579
AbstractArticlePDF–10M
12.
A crucial role for Arf6 in the response of commissural axons to Slit
Mariko Kinoshita-Kawada, Hiroshi Hasegawa, Tsunaki Hongu, Shigeru Yanagi, Yasunori Kanaho, Ichiro Masai, Takayasu Mishima, Xiaoping Chen, Yoshio Tsuboi, Yi Rao, Junichi Yuasa-Kawada, Jane Y. Wu
Development. 2019 Feb 1; 146(3): dev172106. Published online 2019 Feb 4. doi: 10.1242/dev.172106
PMCID:
PMC6382006
AbstractArticle
13.
Spatio-temporal profile of postynaptic interactomes integrates components of complex brain disorders
Jing Li, Wangshu Zhang, Hui Yang, Daniel P. Howrigan, Brent Wilkinson, Tade Souaiaia, Oleg V. Evgrafov, Giulio Genovese, Veronica A. Clementel, Jennifer C. Tudor, Ted Abel, James A. Knowles, Benjamin M. Neale, Kai Wang, Fengzhu Sun, Marcelo P. Coba
Nat Neurosci. Author manuscript; available in PMC 2018 Aug 1.
Published in final edited form as: Nat Neurosci. 2017 Aug; 20(8): 1150–1161. Published online 2017 Jun 26. doi: 10.1038/nn.4594
PMCID:
PMC5645082
AbstractArticlePDF–2.3M
14.
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
S J Hinze, M R Jackson, S Lie, L Jolly, M Field, S C Barry, R J Harvey, C Shoubridge
Transl Psychiatry. 2017 May; 7(5): e1110. Published online 2017 May 2. doi: 10.1038/tp.2017.81
PMCID:
PMC5534949
AbstractArticlePDF–1.3M
15.
Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling
Brent Wilkinson, Jing Li, Marcelo P. Coba
Sci Rep. 2017; 7: 5272. Published online 2017 Jul 13. doi: 10.1038/s41598-017-05588-3
PMCID:
PMC5509740
AbstractArticlePDF–4.6M
16.
Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation
Mohammad Nael Elagabani, Dušica Briševac, Michael Kintscher, Jörg Pohle, Georg Köhr, Dietmar Schmitz, Hans-Christian Kornau
J Biol Chem. 2016 Apr 22; 291(17): 9105–9118. Published online 2016 Feb 16. doi: 10.1074/jbc.M115.691717
PMCID:
PMC4861478
AbstractArticlePDF–3.7M
17.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
18.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
19.
Comparative Sequence and X-Inactivation Analyses of a Domain of Escape in Human Xp11.2 and the Conserved Segment in Mouse
Karen D. Tsuchiya, John M. Greally, Yajun Yi, Kevin P. Noel, Jean-Pierre Truong, Christine M. Disteche
Genome Res. 2004 Jul; 14(7): 1275–1284. doi: 10.1101/gr.2575904
PMCID:
PMC442142
AbstractArticlePDF–293K
20.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M

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