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Items: 1 to 20 of 43

1.
The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function
Jianhua Zhang, Mritunjay Pandey, Adam Awe, Nicole Lue, Claire Kittock, Emma Fikse, Katherine Degner, Jenna Staples, Neha Mokhasi, Weiping Chen, Yanqin Yang, Poorni Adikaram, Nirmal Jacob, Emily Greenfest-Allen, Rachel Thomas, Laura Bomeny, Yajun Zhang, Timothy J. Petros, Xiaowen Wang, Yulong Li, William F. Simonds
Am J Hum Genet. 2024 Mar 7; 111(3): 473–486. Published online 2024 Feb 13. doi: 10.1016/j.ajhg.2024.01.005
PMCID:
PMC10940018
AbstractArticlePDF–4.4M
2.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
3.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M
4.
Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gβ5 signaling complex
Dipak N. Patil, Shikha Singh, Thibaut Laboute, Timothy S. Strutzenberg, Xingyu Qiu, Di Wu, Scott J. Novick, Carol V. Robinson, Patrick R. Griffin, John F. Hunt, Tina Izard, Appu K. Singh, Kirill A. Martemyanov
Science. Author manuscript; available in PMC 2023 Jan 7.
Published in final edited form as: Science. 2022 Jan 7; 375(6576): 86–91. Published online 2021 Nov 18. doi: 10.1126/science.abl4732
PMCID:
PMC8926151
AbstractArticlePDF–1.0M
5.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, SYNAPS Study Group, Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond
J Med Genet. 2021 Dec; 58(12): 815–831. Published online 2020 Nov 10. doi: 10.1136/jmedgenet-2020-107015
PMCID:
PMC8639930
AbstractArticlePDF–6.3M
6.
Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gβ5
Eunyoung Jeong, Yoojoong Kim, Jihong Jeong, Yunje Cho
Nat Commun. 2021; 12: 6805. Published online 2021 Nov 23. doi: 10.1038/s41467-021-27147-1
PMCID:
PMC8611064
AbstractArticlePDF–2.7M
7.
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes
Zhuo Shao, Ikuo Masuho, Anupreet Tumber, Jason T. Maynes, Erika Tavares, Asim Ali, Stacy Hewson, Andreas Schulze, Peter Kannu, Kirill A. Martemyanov, Ajoy Vincent
Genes (Basel) 2021 Sep; 12(9): 1352. Published online 2021 Aug 29. doi: 10.3390/genes12091352
PMCID:
PMC8469011
AbstractArticlePDF–4.0M
8.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
9.
Combinatorial CRISPR screen identifies fitness effects of gene paralogues
Nicola A. Thompson, Marco Ranzani, Louise van der Weyden, Vivek Iyer, Victoria Offord, Alastair Droop, Fiona Behan, Emanuel Gonçalves, Anneliese Speak, Francesco Iorio, James Hewinson, Victoria Harle, Holly Robertson, Elizabeth Anderson, Beiyuan Fu, Fengtang Yang, Guido Zagnoli-Vieira, Phil Chapman, Martin Del Castillo Velasco-Herrera, Mathew J. Garnett, Stephen P. Jackson, David J. Adams
Nat Commun. 2021; 12: 1302. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21478-9
PMCID:
PMC7910459
AbstractArticlePDF–3.3M
10.
Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism
Michael Aregger, Keith A. Lawson, Maximillian Billmann, Michael Costanzo, Amy H. Y. Tong, Katherine Chan, Mahfuzur Rahman, Kevin R. Brown, Catherine Ross, Matej Usaj, Lucy Nedyalkova, Olga Sizova, Andrea Habsid, Judy Pawling, Zhen-Yuan Lin, Hala Abdouni, Cassandra J. Wong, Alexander Weiss, Patricia Mero, James W. Dennis, Anne-Claude Gingras, Chad L. Myers, Brenda J. Andrews, Charles Boone, Jason Moffat
Nat Metab. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Nat Metab. 2020 Jun; 2(6): 499–513. Published online 2020 Jun 1. doi: 10.1038/s42255-020-0211-z
PMCID:
PMC7566881
AbstractArticlePDF–4.8M
11.
Regulators of G-Protein Signaling (RGS) Proteins: Region-Specific Expression of Nine Subtypes in Rat Brain
Stephen J. Gold, Yan G. Ni, Henrik G. Dohlman, Eric J. Nestler
J Neurosci. 1997 Oct 15; 17(20): 8024–8037. doi: 10.1523/JNEUROSCI.17-20-08024.1997
PMCID:
PMC6793903
AbstractArticlePDF–2.9M
12.
Selective Regulation of N-Type Ca Channels by Different Combinations of G-Protein β/γ Subunits and RGS Proteins
Janice Y. Zhou, David P. Siderovski, Richard J. Miller
J Neurosci. 2000 Oct 1; 20(19): 7143–7148. doi: 10.1523/JNEUROSCI.20-19-07143.2000
PMCID:
PMC6772774
AbstractArticlePDF–285K
13.
Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh)
Christiaan C. Veerman, Isabella Mengarelli, Charlotte D. Koopman, Ronald Wilders, Shirley C. van Amersfoorth, Diane Bakker, Rianne Wolswinkel, Mariam Hababa, Teun P. de Boer, Kaomei Guan, James Milnes, Elisabeth M. Lodder, Jeroen Bakkers, Arie O. Verkerk, Connie R. Bezzina
Dis Model Mech. 2019 Jul 1; 12(7): dmm037994. Published online 2019 Jul 9. doi: 10.1242/dmm.037994
PMCID:
PMC6679373
AbstractArticle
14.
Gβ5 Is Required for Normal Light Responses and Morphology of Retinal ON-Bipolar Cells
Anjali Rao, Rebecca Dallman, Scott Henderson, Ching-Kang Chen
J Neurosci. 2007 Dec 19; 27(51): 14199–14204. doi: 10.1523/JNEUROSCI.4934-07.2007
PMCID:
PMC6673526
AbstractArticlePDF–404K
15.
Intramolecular domain dynamics regulate synaptic MAGUK protein interactions
Nils Rademacher, Benno Kuropka, Stella-Amrei Kunde, Markus C Wahl, Christian Freund, Sarah A Shoichet
eLife. 2019; 8: e41299. Published online 2019 Mar 13. doi: 10.7554/eLife.41299
PMCID:
PMC6438691
AbstractArticlePDF–11M
16.
Structural organization of a major neuronal G protein regulator, the RGS7-Gβ5-R7BP complex
Dipak N Patil, Erumbi S Rangarajan, Scott J Novick, Bruce D Pascal, Douglas J Kojetin, Patrick R Griffin, Tina Izard, Kirill A Martemyanov
eLife. 2018; 7: e42150. Published online 2018 Dec 12. doi: 10.7554/eLife.42150
PMCID:
PMC6310461
AbstractArticlePDF–6.0M
17.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
18.
GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition
Hanan E. Shamseldin, Ikuo Masuho, Ahmed Alenizi, Suad Alyamani, Dipak N. Patil, Niema Ibrahim, Kirill A. Martemyanov, Fowzan S. Alkuraya
Genome Biol. 2016; 17: 195. Published online 2016 Sep 27. doi: 10.1186/s13059-016-1061-6
PMCID:
PMC5037613
AbstractArticlePDF–1.5M
19.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A. Nannenberg, Lamiae Boualla, Nico A. Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep Hande Coban Akdemir, Richard J. Fish, Mohammad K. Eldomery, Ilham Ratbi, Arthur A.M. Wilde, Teun de Boer, William F. Simonds, Marguerite Neerman-Arbez, V. Reid Sutton, Fernando Kok, James R. Lupski, Alexandre Reymond, Connie R. Bezzina, Jeroen Bakkers, Giuseppe Merla
Am J Hum Genet. 2016 Sep 1; 99(3): 704–710. Published online 2016 Aug 11. doi: 10.1016/j.ajhg.2016.06.025
Correction in:
Am J Hum Genet. 2016 Sep 1; 99(3): 786.
PMCID:
PMC5010642
AbstractArticlePDF–1.0M
20.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M

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