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Select item 78207411.

Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability

Fabian Meili, William J. Wei, Wun-Chey Sin, Warren M. Meyers, Iulia Dascalu, Daniel B. Callaghan, Sanja Rogic, Paul Pavlidis, Kurt Haas

Am J Hum Genet. 2021 Jan 7; 108(1): 148–162. Published online 2020 Dec 11. doi: 10.1016/j.ajhg.2020.11.011

PMCID:: PMC7820741

Abstract Article PDF–2.0M

Select item 75487012.

SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons

Nerea Llamosas, Vineet Arora, Ridhima Vij, Murat Kilinc, Lukasz Bijoch, Camilo Rojas, Adrian Reich, BanuPriya Sridharan, Erik Willems, David R. Piper, Louis Scampavia, Timothy P. Spicer, Courtney A. Miller, J. Lloyd Holder, Gavin Rumbaugh

J Neurosci. 2020 Oct 7; 40(41): 7980–7994. doi: 10.1523/JNEUROSCI.1367-20.2020

PMCID:: PMC7548701

Abstract Article PDF–2.9M

Select item 66883563.

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder, Jr

J Neurodev Disord. 2019; 11: 18. Published online 2019 Aug 8. doi: 10.1186/s11689-019-9276-y

PMCID:: PMC6688356

Abstract Article PDF–2.7M

Select item 63403404.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard I. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, G. Christoph Korenke, Conny M.A. van Ravenswaaij-Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

Neurology. 2019 Jan 8; 92(2): e96–e107. doi: 10.1212/WNL.0000000000006729

Correction in:: Neurology. 2019 Nov 12; 93(20): 908.

PMCID:: PMC6340340

Abstract Article PDF–1.3M

Select item 47447425.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Michael J. Parker, Alan E. Fryer, Deborah J. Shears, Katherine L. Lachlan, Shane A. McKee, Alex C. Magee, Shehla Mohammed, Pradeep C. Vasudevan, Soo‐Mi Park, Valérie Benoit, Damien Lederer, Isabelle Maystadt, DDD study, David R. FitzPatrick

Am J Med Genet A. 2015 Oct; 167(10): 2231–2237. Published online 2015 Jun 15. doi: 10.1002/ajmg.a.37189

PMCID:: PMC4744742

Abstract Article PDF–749K

Select item 29252626.

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yan Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant, Guy D’Anjou, Éric Fombonne, Anjene M. Addington, Judith L. Rapoport, Lynn E. Delisi, Marie-Odile Krebs, Faycal Mouaffak, Ridha Joober, Laurent Mottron, Pierre Drapeau, Claude Marineau, Ronald G. Lafrenière, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

N Engl J Med. Author manuscript; available in PMC 2010 Aug 23.

Published in final edited form as: N Engl J Med. 2009 Feb 5; 360(6): 599–605. doi: 10.1056/NEJMoa0805392

Correction in:: volume 361 on page 1814

PMCID:: PMC2925262

Abstract Article PDF–1.0M

Select item 22887657.

The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction

Vladimir Pena, Michael Hothorn, Alexander Eberth, Nikolai Kaschau, Annabel Parret, Lothar Gremer, Fabien Bonneau, Mohammad Reza Ahmadian, Klaus Scheffzek

EMBO Rep. 2008 Apr; 9(4): 350–355. Published online 2008 Mar 7. doi: 10.1038/embor.2008.20

PMCID:: PMC2288765

Abstract Article PDF–314K

Select item 96987258.

The SYNGAP1 3′UTR Variant in ALS Patients Causes Aberrant SYNGAP1 Splicing and Dendritic Spine Loss by Recruiting HNRNPK

Satoshi Yokoi, Takuji Ito, Kentaro Sahashi, Masahiro Nakatochi, Ryoichi Nakamura, Genki Tohnai, Yusuke Fujioka, Shinsuke Ishigaki, Tsuyoshi Udagawa, Yuishin Izumi, Mitsuya Morita, Osamu Kano, Masaya Oda, Takefumi Sone, Hideyuki Okano, Naoki Atsuta, Masahisa Katsuno, Yohei Okada, Gen Sobue

J Neurosci. 2022 Nov 23; 42(47): 8881–8896. doi: 10.1523/JNEUROSCI.0455-22.2022

PMCID:: PMC9698725

Abstract Article PDF–3.2M

Select item 65042279.

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

Thomas K Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissiere, Murat Kilinc, Andres Jimenez-Gomez, Jimmy Lloyd Holder, Jr, Jianrong Tang, Laura L Colgin, Courtney A Miller, Gavin Rumbaugh

eLife. 2019; 8: e46752. Published online 2019 Apr 26. doi: 10.7554/eLife.46752

PMCID:: PMC6504227

Abstract Article PDF–2.2M

Select item 370415710.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M. E. Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

Nat Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Nat Genet. 2013 Jul; 45(7): 825–830. Published online 2013 May 26. doi: 10.1038/ng.2646

PMCID:: PMC3704157

Article PDF–667K

Select item 674224711.

The Role of Synaptic GTPase-Activating Protein in Neuronal Development and Synaptic Plasticity

Jee Hae Kim, Hey-Kyoung Lee, Kogo Takamiya, Richard L. Huganir

J Neurosci. 2003 Feb 15; 23(4): 1119–1124. doi: 10.1523/JNEUROSCI.23-04-01119.2003

PMCID:: PMC6742247

Abstract Article PDF–315K

Select item 587910112.

Complement Receptor 3-Mediated Inhibition of Inflammasome Priming by Ras GTPase-Activating Protein During Francisella tularensis Phagocytosis by Human Mononuclear Phagocytes

Ky V. Hoang, Murugesan V. S. Rajaram, Heather Marie Curry, Mikhail A. Gavrilin, Mark D. Wewers, Larry S. Schlesinger

Front Immunol. 2018; 9: 561. Published online 2018 Mar 26. doi: 10.3389/fimmu.2018.00561

PMCID:: PMC5879101

Abstract Article PDF–1.5M

Select item 373194613.

Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia

Adam J. Funk, Gavin Rumbaugh, Vahram Harotunian, Robert E. McCullumsmith, James H. Meador-Woodruff

Neuroreport. Author manuscript; available in PMC 2013 Aug 2.

Published in final edited form as: Neuroreport. 2009 Jul 15; 20(11): 1019–1022. doi: 10.1097/WNR.0b013e32832d30d9

PMCID:: PMC3731946

Abstract Article PDF–998K

Select item 464223914.

Convergence of Hippocampal Pathophysiology in Syngap^+/− and Fmr1^−/y Mice

Stephanie A. Barnes, Lasani S. Wijetunge, Adam D. Jackson, Danai Katsanevaki, Emily K. Osterweil, Noboru H. Komiyama, Seth G.N. Grant, Mark F. Bear, U. Valentin Nägerl, Peter C. Kind, David J.A. Wyllie

J Neurosci. 2015 Nov 11; 35(45): 15073–15081. doi: 10.1523/JNEUROSCI.1087-15.2015

PMCID:: PMC4642239

Abstract Article PDF–1.8M

Select item 302179815.

Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony J. Bailey, Gillian Baird, Agatino Battaglia, Tom Berney, Nadia Bolshakova, Sven Bölte, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian Casey, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Geraldine Dawson, Maretha de Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Ana Filipa, Susan E. Folstein, Eric Fombonne, Christine M. Freitag, John Gilbert, Christopher Gillberg, Joseph T. Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hakon Hakonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer L. Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara M. Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventhal, Anath C. Lionel, Xiao-Qing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala K. Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Katerina Papanikolaou, Jeremy R. Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge, Joseph Piven, Chris P. Ponting, David J. Posey, Annemarie Poustka, Fritz Poustka, Aparna Prasad, Jiannis Ragoussis, Katy Renshaw, Jessica Rickaby, Wendy Roberts, Kathryn Roeder, Bernadette Roge, Michael L. Rutter, Laura J. Bierut, John P. Rice, SAGE Consortium, Jeff Salt, Katherine Sansom, Daisuke Sato, Ricardo Segurado, Lili Senman, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Olaf Stein, Vera Stoppioni, Christina Strawbridge, Raffaella Tancredi, Katherine Tansey, Bhooma Thiruvahindrapduram, Ann P. Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Simon Wallace, Kai Wang, Zhouzhi Wang, Thomas H. Wassink, Caleb Webber, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Jing Wu, Brian L. Yaspan, Danielle Zurawiecki, Lonnie Zwaigenbaum, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Bernie Devlin, Sean Ennis, Louise Gallagher, Daniel H. Geschwind, Michael Gill, Jonathan L. Haines, Joachim Hallmayer, Judith Miller, Anthony P. Monaco, John I. Nurnberger, Jr., Andrew D. Paterson, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Peter Szatmari, Astrid M. Vicente, Veronica J. Vieland, Ellen M. Wijsman, Stephen W. Scherer, James S. Sutcliffe, Catalina Betancur

Nature. Author manuscript; available in PMC 2011 Jan 16.

Published in final edited form as: Nature. 2010 Jul 15; 466(7304): 368–372. Published online 2010 Jun 9. doi: 10.1038/nature09146

PMCID:: PMC3021798

Abstract Article PDF–458K

Select item 35889316.

Tyrosines 1021 and 1009 are phosphorylation sites in the carboxy terminus of the platelet-derived growth factor receptor beta subunit and are required for binding of phospholipase C gamma and a 64-kilodalton protein, respectively.

M Valius, C Bazenet, A Kazlauskas

Mol Cell Biol. 1993 Jan; 13(1): 133–143. doi: 10.1128/mcb.13.1.133

PMCID:: PMC358893

Summary Page Browse PDF–3.0M

Select item 1019881717.

Upregulation of SYNGAP1 expression in mice and human neurons by redirecting alternative splicing

Runwei Yang, Xinran Feng, Alejandra Arias-Cavieres, Robin M. Mitchell, Ashleigh Polo, Kaining Hu, Rong Zhong, Cai Qi, Rachel S. Zhang, Nathaniel Westneat, Cristabel A. Portillo, Marcelo A. Nobrega, Christian Hansel, Alfredo J. Garcia, III, Xiaochang Zhang

Neuron. Author manuscript; available in PMC 2024 May 17.

Published in final edited form as: Neuron. 2023 May 17; 111(10): 1637–1650.e5. Published online 2023 Mar 13. doi: 10.1016/j.neuron.2023.02.021

PMCID:: PMC10198817

Abstract Article PDF–1.3M

Select item 410457418.

Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons

Emin D. Ozkan, Thomas K. Creson, Enikö A. Kramár, Camilo Rojas, Ron R. Seese, Alex H. Babyan, Yulin Shi, Rocco Lucero, Xiangmin Xu, Jeffrey L. Noebels, Courtney A. Miller, Gary Lynch, Gavin Rumbaugh

Neuron. Author manuscript; available in PMC 2015 Jun 18.

Published in final edited form as: Neuron. 2014 Jun 18; 82(6): 1317–1333. doi: 10.1016/j.neuron.2014.05.015

PMCID:: PMC4104574

Abstract Article PDF–2.1M

Select item 37423619.

Role of Unc51.1 and its binding partners in CNS axon outgrowth

Toshifumi Tomoda, Jee Hae Kim, Caixin Zhan, Mary E. Hatten

Genes Dev. 2004 Mar 1; 18(5): 541–558. doi: 10.1101/gad.1151204

PMCID:: PMC374236

Abstract Article PDF–758K

Select item 433523020.

Phosphorylation of Synaptic GTPase-activating Protein (synGAP) by Ca²⁺/Calmodulin-dependent Protein Kinase II (CaMKII) and Cyclin-dependent Kinase 5 (CDK5) Alters the Ratio of Its GAP Activity toward Ras and Rap GTPases

Ward G. Walkup, IV, Lorraine Washburn, Michael J. Sweredoski, Holly J. Carlisle, Robert L. Graham, Sonja Hess, Mary B. Kennedy

J Biol Chem. 2015 Feb 20; 290(8): 4908–4927. Published online 2014 Dec 22. doi: 10.1074/jbc.M114.614420

PMCID:: PMC4335230

Abstract Article PDF–3.0M

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