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Select item 62491201.

NBEA: developmental disease gene with early generalized epilepsy phenotypes

Maureen S. Mulhern, Constance Stumpel, Nicholas Stong, Han G. Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P.W. Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P.A. Stegmann, Mary K. Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette JV Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R. Lemke, Christian Korff, Heather C. Mefford, Candace T. Meyers, Zsuzsanna Siegler, Susan M. Hiatt, Gregory M. Cooper, E. Martina Bebin, Lot Snijders-Blok, Hermine E. Veenstra-Knol, Evan H. Baugh, E.H. Brilstra, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L. Heinzen, David B. Goldstein, Servi J. C. Stevens, Tristan T. Sands

Ann Neurol. Author manuscript; available in PMC 2019 Nov 1.

Published in final edited form as: Ann Neurol. 2018 Nov; 84(5): 788–795. Published online 2018 Oct 25. doi: 10.1002/ana.25350

PMCID:: PMC6249120

Abstract Article PDF–123K

Select item 43940212.

Genome Wide Association Study Identifies Variants in NBEA Associated with Migraine in Bipolar Disorder

Kaya K. Jacobsen, Caroline M. Nievergelt, Tetyana Zayats, Tiffany A. Greenwood, Verneri Anttila, BiGS Consortium, Hagop S. Akiskal, IHG Consortium, Jan Haavik, Ole Bernt Fasmer, John R. Kelsoe, Stefan Johansson, Ketil J. Oedegaard

J Affect Disord. Author manuscript; available in PMC 2016 Mar 29.

Published in final edited form as: J Affect Disord. 2015 Feb 1; 172: 453–461. Published online 2014 Oct 12. doi: 10.1016/j.jad.2014.10.004

PMCID:: PMC4394021

Abstract Article PDF–401K

Select item 28685873.

Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma

Julie O’Neal, Feng Gao, Anjum Hassan, Ryan Monahan, Samantha Barrios, Manfred W. Kilimann, Ian Lee, Wee J. Chng, Ravi Vij, Michael H. Tomasson

Exp Hematol. Author manuscript; available in PMC 2010 May 12.

Published in final edited form as: Exp Hematol. 2009 Feb; 37(2): 234–244. doi: 10.1016/j.exphem.2008.10.014

Correction in:: volume 37 on page 532

PMCID:: PMC2868587

Abstract Article PDF–1.2M

Select item 17354794.

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

D Castermans, V Wilquet, E Parthoens, C Huysmans, J Steyaert, L Swinnen, J Fryns, W Van de Ven, K Devriendt

J Med Genet. 2003 May; 40(5): 352–356. doi: 10.1136/jmg.40.5.352

PMCID:: PMC1735479

Summary PDF–475K

Select item 1262985.

Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain

Gerwald Jogl, Yang Shen, Damara Gebauer, Jiang Li, Katja Wiegmann, Hamid Kashkar, Martin Krönke, Liang Tong

EMBO J. 2002 Sep 16; 21(18): 4785–4795. doi: 10.1093/emboj/cdf502

PMCID:: PMC126298

Abstract Article PDF–519K

Select item 33054086.

Neurobeachin, a Regulator of Synaptic Protein Targeting, Is Associated with Body Fat Mass and Feeding Behavior in Mice and Body-Mass Index in Humans

Pawel K. Olszewski, Jan Rozman, Josefin A. Jacobsson, Birgit Rathkolb, Siv Strömberg, Wolfgang Hans, Anica Klockars, Johan Alsiö, Ulf Risérus, Lore Becker, Sabine M. Hölter, Ralf Elvert, Nicole Ehrhardt, Valérie Gailus-Durner, Helmut Fuchs, Robert Fredriksson, Eckhard Wolf, Thomas Klopstock, Wolfgang Wurst, Allen S. Levine, Claude Marcus, Martin Hrabě de Angelis, Martin Klingenspor, Helgi B. Schiöth, Manfred W. Kilimann

PLoS Genet. 2012 Mar; 8(3): e1002568. Published online 2012 Mar 15. doi: 10.1371/journal.pgen.1002568

PMCID:: PMC3305408

Abstract Article PDF–629K

Select item 33800047.

Synapse Associated Protein 102 (SAP102) Binds the C-Terminal Part of the Scaffolding Protein Neurobeachin

Juliane Lauks, Patricia Klemmer, Fatima Farzana, Ramesh Karupothula, Robbert Zalm, Nancy E. Cooke, Ka Wan Li, August B. Smit, Ruud Toonen, Matthijs Verhage

PLoS One. 2012; 7(6): e39420. Published online 2012 Jun 20. doi: 10.1371/journal.pone.0039420

PMCID:: PMC3380004

Abstract Article PDF–436K

Select item 67730508.

Neurobeachin: A Protein Kinase A-Anchoring,beige/Chediak-Higashi Protein Homolog Implicated in Neuronal Membrane Traffic

Xiaolu Wang, Friedrich W. Herberg, Michael M. Laue, Christiane Wüllner, Bin Hu, Elisabeth Petrasch-Parwez, Manfred W. Kilimann

J Neurosci. 2000 Dec 1; 20(23): 8551–8565. doi: 10.1523/JNEUROSCI.20-23-08551.2000

PMCID:: PMC6773050

Abstract Article PDF–1.5M

Select item 27912209.

Common Genetic Variation and the Control of HIV-1 in Humans

Jacques Fellay, Dongliang Ge, Kevin V. Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T. Cirulli, Thomas J. Urban, Kunlin Zhang, Curtis E. Gumbs, Jason P. Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F. Günthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, José M. Miro, Niels Obel, Steven M. Wolinsky, Jeremy J. Martinson, Roger Detels, Joseph B. Margolick, Lisa P. Jacobson, Patrick Descombes, Stylianos E. Antonarakis, Jacques S. Beckmann, Stephen J. O'Brien, Norman L. Letvin, Andrew J. McMichael, Barton F. Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B. Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI)

PLoS Genet. 2009 Dec; 5(12): e1000791. Published online 2009 Dec 24. doi: 10.1371/journal.pgen.1000791

PMCID:: PMC2791220

Abstract Article PDF–1.7M

Select item 850895210.

Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination

Xuxu Fan, Dihan Zhou, Bali Zhao, Huijun Sha, Mengxue Li, Xian Li, Jingyi Yang, Huimin Yan

Int J Mol Sci. 2021 Oct; 22(19): 10466. Published online 2021 Sep 28. doi: 10.3390/ijms221910466

PMCID:: PMC8508952

Abstract Article PDF–35M

Select item 873072911.

Cytoplasmic dynein-1 cargo diversity is mediated by the combinatorial assembly of FTS–Hook–FHIP complexes

Jenna R Christensen, Agnieszka A Kendrick, Joey B Truong, Adriana Aguilar-Maldonado, Vinit Adani, Monika Dzieciatkowska, Samara L Reck-Peterson

eLife. 2021; 10: e74538. Published online 2021 Dec 9. doi: 10.7554/eLife.74538

PMCID:: PMC8730729

Abstract Article PDF–14M

Select item 404112312.

Genome-wide meta-analysis identifies new susceptibility loci for migraine

Verneri Anttila, Bendik S. Winsvold, Padhraig Gormley, Tobias Kurth, Francesco Bettella, George McMahon, Mikko Kallela, Rainer Malik, Boukje de Vries, Gisela Terwindt, Sarah E. Medland, Unda Todt, Wendy L. McArdle, Lydia Quaye, Markku Koiranen, M. Arfan Ikram, Terho Lehtimäki, Anine H. Stam, Lannie Ligthart, Juho Wedenoja, Ian Dunham, Benjamin M. Neale, Priit Palta, Eija Hamalainen, Markus Schürks, Lynda M Rose, Julie E. Buring, Paul M. Ridker, Stacy Steinberg, Hreinn Stefansson, Finnbogi Jakobsson, Debbie A. Lawlor, David M. Evans, Susan M. Ring, Markus Färkkilä, Ville Artto, Mari A Kaunisto, Tobias Freilinger, Jean Schoenen, Rune R. Frants, Nadine Pelzer, Claudia M. Weller, Ronald Zielman, Andrew C. Heath, Pamela A.F. Madden, Grant W. Montgomery, Nicholas G. Martin, Guntram Borck, Hartmut Göbel, Axel Heinze, Katja Heinze-Kuhn, Frances M.K. Williams, Anna-Liisa Hartikainen, Anneli Pouta, Joyce van den Ende, Andre G. Uitterlinden, Albert Hofman, Najaf Amin, Jouke-Jan Hottenga, Jacqueline M. Vink, Kauko Heikkilä, Michael Alexander, Bertram Muller-Myhsok, Stefan Schreiber, Thomas Meitinger, Heinz Erich Wichmann, Arpo Aromaa, Johan G. Eriksson, Bryan Traynor, Daniah Trabzuni, North American Brain Expression Consortium, UK Brain Expression Consortium, Elizabeth Rossin, Kasper Lage, Suzanne B.R. Jacobs, J. Raphael Gibbs, Ewan Birney, Jaakko Kaprio, Brenda W. Penninx, Dorret I. Boomsma, Cornelia van Duijn, Olli Raitakari, Marjo-Riitta Jarvelin, John-Anker Zwart, Lynn Cherkas, David P. Strachan, Christian Kubisch, Michel D. Ferrari, Arn M.J.M. van den Maagdenberg, Martin Dichgans, Maija Wessman, George Davey Smith, Kari Stefansson, Mark J. Daly, Dale R. Nyholt, Daniel Chasman, Aarno Palotie

Nat Genet. Author manuscript; available in PMC 2014 Jun 2.

Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 912–917. Published online 2013 Jun 23. doi: 10.1038/ng.2676

PMCID:: PMC4041123

Article PDF–571K

Select item 359599013.

NOTCH1 Nuclear Interactome Reveals Key Regulators of Its Transcriptional Activity and Oncogenic Function

Ahmad Yatim, Clarisse Benne, Bijan Sobhian, Sabine Laurent-Chabalier, Olivier Deas, Jean-Gabriel Judde, Jean-Daniel Lelievre, Yves Levy, Monsef Benkirane

Mol Cell. Author manuscript; available in PMC 2013 Mar 13.

Published in final edited form as: Mol Cell. 2012 Nov 9; 48(3): 445–458. Published online 2012 Sep 27. doi: 10.1016/j.molcel.2012.08.022

PMCID:: PMC3595990

Abstract Article PDF–3.9M

Select item 849099714.

BioID reveals an ATG9A interaction with ATG13‐ATG101 in the degradation of p62/SQSTM1‐ubiquitin clusters

Ashari R Kannangara, Daniel M Poole, Colten M McEwan, Joshua C Youngs, Vajira K Weerasekara, Alex M Thornock, Misael T Lazaro, Eranga R Balasooriya, Laura M Oh, Erik J Soderblom, Jonathan J Lee, Daniel L Simmons, Joshua L Andersen

EMBO Rep. 2021 Oct 5; 22(10): e51136. Published online 2021 Aug 9. doi: 10.15252/embr.202051136

PMCID:: PMC8490997

Abstract Article PDF–4.5M

Select item 356134315.

VCP Phosphorylation-Dependent Interaction Partners Prevent Apoptosis in Helicobacter pylori-Infected Gastric Epithelial Cells

Cheng-Chou Yu, Jyh-Chin Yang, Yen-Ching Chang, Jiing-Guang Chuang, Chung-Wu Lin, Ming-Shiang Wu, Lu-Ping Chow

PLoS One. 2013; 8(1): e55724. Published online 2013 Jan 31. doi: 10.1371/journal.pone.0055724

PMCID:: PMC3561343

Abstract Article PDF–1.9M

Select item 992246816.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 997863517.

Fibril treatment changes protein interactions of tau and α-synuclein in human neurons

Tagan A. Griffin, Paul D. Schnier, Elisa M. Cleveland, Robert W. Newberry, Julia Becker, George A. Carlson

J Biol Chem. 2023 Mar; 299(3): 102888. Published online 2023 Jan 10. doi: 10.1016/j.jbc.2023.102888

PMCID:: PMC9978635

Abstract Article PDF–10M

Select item 903755418.

C5orf51 is a component of the MON1-CCZ1 complex and controls RAB7A localization and stability during mitophagy

Bing-Ru Yan, Taoyingnan Li, Etienne Coyaud, Estelle M. N. Laurent, Jonathan St-Germain, Yuhuan Zhou, Peter K. Kim, Brian Raught, John H. Brumell

Autophagy. 2022; 18(4): 829–840. Published online 2021 Aug 25. doi: 10.1080/15548627.2021.1960116

PMCID:: PMC9037554

Abstract Article PDF–4.1M

Select item 660091519.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 943393820.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Abstract Article PDF–9.3M

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