A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

Autor: Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt

Publikováno v: JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)

Abstract Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant i

Externí odkaz: https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f

Contributors

Autor: John M. Abrams, John P. Adelman, Joseph L. Alcorn, Dario R. Alessi, Emil Alexov, Simon Alford, Kari Alitalo, James P. Allison, Steven C. Almo, Christelle Alory, Aymen Al-Shamkhani, Sally A. Amundson, Carl W. Anderson, Jannik N. Andersen, Peter Angel, Ettore Appella, William J. Arendshorst, Steve Arkinstall, Anjon Audhya, Joseph Avruch, Gary D. Bader, Cinzia Bagala, William E. Balch, Jesus Balsinde, Utpal Banerjee, David Barford, Dafna Bar-Sagi, Perry F. Bartlett, Philippe I.H. Bastiaens, Chiara Battelli, Linnea M. Baudhuin, Andrew J. Beavil, Rebecca L. Beavil, Joseph A. Beavo, Elsa Bello-Reuss, Stephen Bellum, Juan Carlos Izpisúa Belmonte, Craig B. Bennett, Jeffrey L. Benovic, Michael J. Berridge, Penny J. Beuning, Rashna Bhandari, Ananya Bhattacharya, Martin Biel, Vincent A. Bielinski, Hana Bilak, Lutz Birnbaumer, Geoff Birrell, Gail A. Bishop, Trillium Blackmer, Perry J. Blackshear, Christine Blattner, Mordecai P. Blaustein, Gary M. Bokoch, Lynda F. Bonewald, Marco Bonomi, Michelle A. Booden, Charles Boone, Martin D. Bootman, Johannes L. Bos, Jane M. Bradbury, Ralph A. Bradshaw, Anne R. Bresnick, Lena Brevnova, Ross I. Brinkworth, Michael S. Brown, Steven A. Brown, Anne Brunet, Robert Bucki, Robert D. Burgoyne, Janice E. Buss, Ronald A. Butow, Javier Capdevila, Ernesto Carafoli, Cathrine R. Carlson, Graham Carpenter, Juan J. Carrillo, Patrick J. Casey, William A. Catterall, Richard A. Cerione, Gianni Cesareni, Andrew C. Chan, Geoffrey Chang, Moses V. Chao, Harry Charbonneau, Philip Chen, Alan Cheng, Chris Chiu, Dar-chone Chow, Ted D. Chrisman, Anne Elisabeth Christensen, Jee Y. Chung, Grant C. Churchill, Aaron Ciechanover, Gino Cingolani, Sylvie Claeysen, Jean Closset, Shamshad Cockcroft, Patricia T.W. Cohen, Philip Cohen, Roger J. Colbran, Clay E.S. Comstock, Marco Conti, Jackie D. Corbin, Daniela Corda, Sabine Costagliola, Rick H. Cote, Shaun R. Coughlin, L. Ashley Cowart, Adrienne D. Cox, Mark S. Cragg, José L. Crespo, Claudia Crosio, Christopher Daly, Sami Damak, Mary Dasso, Michael David, Anthony J. Davis, Roger J. Davis, Richard N. Day, Eva Degerman, Warren L. DeLano, Mark L. Dell'Acqua, Emmanuèle Délot, Bruce Demple, Edward A. Dennis, John M. Denu, Anna A. DePaoli-Roach, Channing J. Der, Johan de Rooij, Frederic de Sauvage, Peter N. Devreotes, Valérie Dewaste, Robert B. Dickson, Becky A. Diebold, Pier Paolo Di Fiori, Maria Di Girolamo, Julie Diplexcito, Jack E. Dixon, Robert W. Doms, Daniel J. Donoghue, Russell F. Doolittle, Stein Ove Døskeland, Wolfgang R.G. Dostmann, Matthias K. Dreyer, Guo Guang Du, Keyong Du, Michael R. Duchen, William G. Dunphy, Joanne Durgan, Michael L. Dustin, Peter A. Edwards, Jackson G. Egen, Lee E. Eiden, Elaine A. Elion, Scott Emr, Othmar G. Engelhardt, Christophe Erneux, Peter J. Espenshade, Edward D. Esplin, B. Mark Evers, Joanne L. Eyles, Sheelagh Fame, Marilyn Farquhar, Robert Feil, Gui-Jie Feng, Stanley Fields, James J. Fiordalisi, Richard A. Firtel, Garret A. Fitzgerald, Andrew Flint, Marco Foiani, Barry Marc Forman, Albert J. Fornace, Sharron H. Francis, Günter Fritz, David A. Fruman, Antony Galione, Chris S. Gandhi, David L. Garbers, K. Christopher Garcia, Benjamin Geiger, Larry Gerace, Andrea Gerstner, Amato J. Giaccia, Michele Giannattasio, Vincent Giguère, Christopher K. Glass, Martin J. Glennie, Jennifer L. Glick, Joseph L. Goldstein, Venkatesh Gopal, Myriam Gorospe, Cedric Govaerts, Paul R. Graves, Patrick W. Gray, Irene Graziani, Douglas R. Green, Michael E. Greenberg, Iva Greenwald, Haihua Gu, Nuri Gueven, J. Silvio Gutkind, Jesper Z. Haeggström, Alan Hall, Michael N. Hall, Otto Haller, Heidi E. Hamm, Yusef A. Hannun, Carl A. Hansen, T. Kendall Harden, D. Grahame Hardie, Kiminori Hasegawa, Phillip T. Hawkins, Timothy A.J. Haystead, Xiao-lin He, Claus W. Heizmann, Carl-Henrik Heldin, Michelle L. Hermiston, Peter Herrlich, Elizabeth A. Hewat, Bertil Hille, Douglas J. Hilton, K.A. Hinchliffe, Steffan N. Ho, Su-Chin Ho, Mark Hochstrasser, Franz Hofmann, Christopher W. Hogue, Wim G.J. Hol, Jocelyn Holash, Robert A. Holmgren, Barry Honig, Bruce S. Hostager, Stevan R. Hubbard, Michael Huber, Tony Hunter, Anna Huttenlocher, Sarah G. Hymowitz, James N. Ihle, Jean-Luc Imler, R.F. Irvine, Ehud Y. Isacoff, Xavier Iturrioz, Lars F. Iversen, Ravi Iyengar, Stephen P. Jackson, Lily Yeh Jan, Fabiola Janiak-Spens, Paul A. Janmey, Peter Gildsig Jansen, Sophie Jarriault, Jonathan A. Javitch, Elwood V. Jensen, Kristen Jepsen, E. Yvonne Jones, Katherine A. Jones, J. Dedrick Jordan, Jomon Joseph, Louis B. Justement, Yariv Kafri, Richard A. Kahn, Shin W. Kang, Arthur Karlin, Heidi R. Kast-Woelbern, Randal J. Kaufman, Andrius Kazlauskas, James H. Keen, Rolf Kemler, Bruce E. Kemp, Mary B. Kennedy, Matthew A. Kennedy, Ushio Kikkawa, Albert H. Kim, Soo-A Kim, Sung-Hou Kim, Youngjoo Kim, Kirst King-Jones, Chris Kintner, Saul Kivimäe, Claude B. Klee, Rüdiger Klein, Thomas Kleppisch, Steven A. Kliewer, Richard A. Klinghoffer, Juergen A. Knoblich, Bostjan Kobe, George Kochs, Monica Kong-Beltran, Rolf König, Albert C. Koong, Murray Korc, Daniel Kornitzer, Anthony A. Kossiakoff, Jun Kotera, M.V. Kovalenko, Tohru Kozasa, Sergei Kozlov, Keith G. Kozminski, Sonja Krugmann, John Kuriyan, Riki Kurokawa, Peter D. Kwong, Wi S. Lai, Elise Lamar, Millard H. Lambert, David G. Lambright, Doron Lancet, Reiko Landry, Wallace Y. Langdon, Lorene K. Langeberg, Paul Lasko, Vaughn Latham, Martin F. Lavin, Kevin A. Lease, Hakon Leffler, Mark A. Lemmon, Ann E. Leonard, Alexander Levitzki, Hong-Jun Liao, Lucy Liaw, Giordano Liberi, Heiko Lickert, Robert C. Liddington, Thomas M. Lincoln, Jürgen U. Linder, Maurine E. Linder, Hui Liu, Zhengchang Liu, Marja K. Lohela, Sarah H. Louie, Deirdre K. Luttrell, Louis M. Luttrell, Karen M. Lyons, S. Lance Macaulay, Michael Maceyka, Thomas Maciag, Fernando Macian, Carol MacKintosh, David H. MacLennan, Nadir A. Mahmood, Craig C. Malbon, Sohail Malik, Orna Man, Carol L. Manahan, Anna Mandinova, Vincent C. Manganiello, James L. Manley, Matthias Mann, Gerald Manning, Ed Manser, Marta Margeta-Mitrovic, Robert F. Margolskee, Julia Marinissen, Roy A. Mariuzza, Mina D. Marmor, G. Steven Martin, Karen H. Martin, Sergio E. Martinez, Michael B. Mathews, Bruce J. Mayer, Mark L. Mayer, Maria R. Mazzoni, Frank McCormick, Clare H. McGowan, Melissa M. McKay, Wallace L. McKeehan, Alison J. McLean, Anthony R. Means, Ruedi Meili, Jingwei Meng, Mark Merchant, Frank Mercurio, Graeme Milligan, Guo-Li Ming, Daniel L. Minor, Nadeem Moghal, Neils Peter H. Møller, Marco Mongillo, Marc Montminy, Randall T. Moon, Richard I. Morimoto, Stephen E. Moss, Helen R. Mott, Carla Mouta, Marco Muda, Marc C. Mumby, Gretchen A. Murphy, Marco Muzi-Falconi, Raghavendra Nagaraj, Stefan R. Nahorski, Angus C. Nairn, Piers Nash, Benjamin G. Neel, Alexandra C. Newton, Yasutomi Nishizuka, Joseph P. Noel, Ellen A.A. Nollen, Irene M.A. Nooren, Rodney O'Connor, Stefan Offermanns, Tsviya Olender, Shao-En Ong, Darerca Owen, Lisa J. Pagliari, Lily Pao, John Papaconstantinou, Leonardo Pardo, Hay-Oak Park, Young Chul Park, Peter J. Parker, J. Thomas Parsons, J.M. Passner, Tony Pawson, Achille Pelliccioli, J. Regino Perez-Polo, Norbert Perrimon, Fabrice G. Petite, Emmanuel Petroulakis, Samuel L. Pfaff, Jacob Piehler, Linda J. Pike, Michael J. Pinkoski, Fiona J. Pixley, Paolo Plevani, Mu-ming Poo, Tullioi Pozzan, Stephen M. Prescott, Igor Prudovsky, James W. Putney, Thomas Radimerski, Elzbieta Radzio-Andzelm, Prahlad T. Ram, Lucia Rameh, Danica Ramljak, Barbara Ranscht, Anjana Rao, Carol J. Raport, Jacqueline D. Reeves, Holger Rehman, Trevor W. Reichman, Eric Reiter, Michael A. Resnick, Michael Reth, Sue Goo Rhee, Joel D. Richter, Rodney L. Rietze, James M. Rini, Jürgen A. Ripperger, Josep Rizo, Janet D. Robishaw, H. Llewelyn Roderick, Robert G. Roeder, Larry R. Rohrschneider, David Ron, Michael G. Rosenfeld, Hans Rosenfeldt, Kent L. Rossman, Christopher B. Roth, Markus G. Rudolph, Anja Ruppelt, Lino Saez, Thomas P. Sakmar, Guy S. Salvesen, Paolo Sassone-Corsi, Charles L. Saxe, Beat W. Schäfer, Ueli Schibler, Christian W. Schindler, Tobias Schmelzle, Sandra L. Schmid, Anja Schmidt, Eric F. Schmidt, Gideon Schreiber, Joachim E. Schultz, Beat Schwaller, Klaus Schwamborn, Thue Schwartz, William F. Schwindinger, Giorgio Scita, John D. Scott, Shaun Scott, Thomas Seebeck, Charles N. Serhan, John B. Shabb, Andrey S. Shaw, Stephen B. Shears, Shirish Shenolikar, Lei Shi, Chanseok Shin, Kazuhiro Shiozaki, Kevan M. Shokat, Trevor J. Shuttleworth, David P. Siderovski, Steven A. Siegelbaum, Adam M. Silverstein, Robert H. Singer, Michael K. Skinner, Jill K. Slack-Davis, Stephen J. Smerdon, Graeme C.M. Smith, Guillaume Smits, Sarah M. Smolik, Jessica E. Smotrys, Emer M. Smyth, Jason T. Snyder, Naoko Sogame, Raffaella Soldi, John Sondek, Nahum Sonenberg, Erica Dutil Sonneberg, Lindsay G. Sparrow, Sarah Spiegel, Stephen R. Sprang, Deepak Srivastava, Robyn L. Stanfield, E. Richard Stanley, Deborah J. Stauber, Christopher Stefan, Lena Stenson-Holst, Len Stephens, Paul W. Sternberg, Paul C. Sternweis, Ruth Steward, John T. Stickney, Andrew W. Stoker, Stephen M. Strittmatter, Beth E. Stronach, Roland K. Strong, Robert M. Stroud, Thomas C. Südhof, Roger K. Sunahara, Brian J. Sutton, Sipeki Szabolcs, Xiao-Bo Tang, Kjetil Taskén, Hisashi Tatebe, Servane Tauszig-Delamasure, Colin W. Taylor, Garry L. Taylor, Laura J. Taylor, Susan S. Taylor, George Thomas, Robert P. Thomas, E. Brad Thompson, Michael J. Thompson, Janet M. Thornton, Carl S. Thummel, Hideaki Togashi, Amy Hin Yan Tong, Nicholas K. Tonks, Peter Tontonoz, M.K. Topham, Knut Martin Torgersen, Hien Tran, Michel L. Tremblay, Ming-Jer Tsai, Sophia Y. Tsai, Susan Tsunoda, Stewart Turley, Darren Tyson, Robert L. Van Etten, Gilbert Vassart, Peter J. Verveer, Virginie Vlaeminck, Abraham M. de Vos, Ty C. Voss, Robert Walczak, Graham C. Walker, John C. Walker, Gernot Walter, Mark R. Walter, Fen Wang, Jean Y.J. Wang, Weiru Wang, Richard J. Ward, Philip Wedegaertner, Christian Wehrle, Arthur Weiss, Jamie L. Weiss, Alan Wells, Claudia Werner, Ann H. West, Marie C. Weston, John K. Westwick, Anders Wetterholm, Morris F. White, Malcolm Whitman, Matt R. Whorton, Christian Wiesmann, Roger L. Williams, William D. Willis, Timothy M. Willson, Ian A. Wilson, Ofer Wiser, Matthew J. Wishart, Alfred Wittinghofer, James R. Woodgett, David K. Worthylake, Jeffrey L. Wrana, Hao Wu, Yijin Xiao, H. Eric Xu, Yan Xu, Zheng Xu, Michael B. Yaffe, Kenneth M. Yamada, Seun-Ah Yang, Wannian Yang, Yosef Yarden, Hong Ye, Weilan Ye, Todd O. Yeates, Helen L. Yin, John D. York, Edgar C. Young, Kenneth W. Young, Matthew A. Young, Michael W. Young, Minmin Yu, Nathan R. Zaccai, Manuela Zaccolo, Eli Zamir, Mark von Zastrow, Chao Zhang, Xuewu Zhang, Zhong-Yin Zhang, Wenhong Zhou, Roya Zoraghi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8de55d9ade3047617aeaa3478f4b703f
https://doi.org/10.1016/b978-012124546-7/50358-2

Vinculin-dependent Cadherin mechanosensing regulates efficient epithelial barrier formation

Autor: Floor Twiss, Quint Le Duc, Suzanne Van Der Horst, Hamid Tabdili, Gerard Van Der Krogt, Ning Wang, Holger Rehmann, Stephan Huveneers, Deborah E. Leckband, Johan De Rooij

Publikováno v: Biology Open, Vol 1, Iss 11, Pp 1128-1140 (2012)

Summary Proper regulation of the formation and stabilization of epithelial cell–cell adhesion is crucial in embryonic morphogenesis and tissue repair processes. Defects in this process lead to organ malformation and defective epithelial barrier fun

Externí odkaz: https://doaj.org/article/475896539af044ddabe3c8bb4d38de38

Structure-guided design of selective Epac1 and Epac2 agonists.

Autor: Frank Schwede, Daniela Bertinetti, Carianne N Langerijs, Michael A Hadders, Hans Wienk, Johanne H Ellenbroek, Eelco J P de Koning, Johannes L Bos, Friedrich W Herberg, Hans-Gottfried Genieser, Richard A J Janssen, Holger Rehmann

Publikováno v: PLoS Biology, Vol 13, Iss 1, p e1002038 (2015)

The second messenger cAMP is known to augment glucose-induced insulin secretion. However, its downstream targets in pancreatic β-cells have not been unequivocally determined. Therefore, we designed cAMP analogues by a structure-guided approach that

Externí odkaz: https://doaj.org/article/53ea691117ff4f0aada85ec8fd78efc2

Bmp and nodal independently regulate lefty1 expression to maintain unilateral nodal activity during left-right axis specification in zebrafish.

Autor: Kelly A Smith, Emily Noël, Ingrid Thurlings, Holger Rehmann, Sonja Chocron, Jeroen Bakkers

Publikováno v: PLoS Genetics, Vol 7, Iss 9, p e1002289 (2011)

In vertebrates, left-right (LR) axis specification is determined by a ciliated structure in the posterior region of the embryo. Fluid flow in this ciliated structure is responsible for the induction of unilateral left-sided Nodal activity in the late

Externí odkaz: https://doaj.org/article/d0e5c9c6605e4cf2bc97e95b50bba6ce