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Items: 1 to 20 of 26

1.
TBCK syndrome: a rare multi-organ neurodegenerative disease
Emily L. Durham, Rajesh Angireddy, Aaron Black, Ashley Melendez-Perez, Sarina Smith, Elizabeth M. Gonzalez, Kristen G. Navarro, Abdias Díaz, Elizabeth J.K. Bhoj, Kaitlin A. Katsura
Trends Mol Med. Author manuscript; available in PMC 2024 Feb 15.
Published in final edited form as: Trends Mol Med. 2023 Oct; 29(10): 783–785. Published online 2023 Jul 14. doi: 10.1016/j.molmed.2023.06.009
PMCID:
PMC10868401
AbstractArticlePDF–453K
2.
A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay
Hongzheng Dai, Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong-Hui Jiang, John A. Phillips, Melissa S. Jones, Pengfei Liu, David R. Murdock, Lindsay C. Burrage, Brendan Lee, Jill A. Rosenfeld, Rui Xiao, Undiagnosed Diseases Network
Hum Mutat. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 1816–1823. Published online 2022 Nov 6. doi: 10.1002/humu.24497
PMCID:
PMC9772143
AbstractArticlePDF–365K
3.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
4.
SARS‐CoV‐2–host proteome interactions for antiviral drug discovery
Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo
Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396
PMCID:
PMC8552907
AbstractArticlePDF–3.9M
5.
Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer
Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger
Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y
PMCID:
PMC8352964
AbstractArticlePDF–4.5M
6.
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
7.
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger
Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001
PMCID:
PMC7427327
AbstractArticle
8.
MiR-1208 Increases the Sensitivity to Cisplatin by Targeting TBCK in Renal Cancer Cells
Eun-Ae Kim, Ji-Hoon Jang, Eon-Gi Sung, In-Hwan Song, Joo-Young Kim, Tae-Jin Lee
Int J Mol Sci. 2019 Jul; 20(14): 3540. Published online 2019 Jul 19. doi: 10.3390/ijms20143540
PMCID:
PMC6679220
AbstractArticlePDF–13M
9.
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber
Acta Neuropathol Commun. 2018; 6: 145. Published online 2018 Dec 27. doi: 10.1186/s40478-018-0646-6
PMCID:
PMC6307319
AbstractArticlePDF–3.9M
10.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
11.
Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy
Xilma R Ortiz-González, Jesus A Tintos-Hernández, Kierstin Keller, Xueli Li, A. Reghan Foley, Diana X Bharucha-Goebel, Sudha K Kessler, Sabrina W. Yum, Peter B. Crino, Miao He, Douglas C Wallace, Carsten G. Bönnemann
Ann Neurol. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: Ann Neurol. 2018 Jan; 83(1): 153–165. doi: 10.1002/ana.25130
PMCID:
PMC5876123
AbstractArticlePDF–627K
12.
Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair
Huiming Lu, Raghavendra A. Shamanna, Jessica K. de Freitas, Mustafa Okur, Prabhat Khadka, Tomasz Kulikowicz, Priscella P. Holland, Jane Tian, Deborah L. Croteau, Anthony J. Davis, Vilhelm A. Bohr
Nat Commun. 2017; 8: 2039. Published online 2017 Dec 11. doi: 10.1038/s41467-017-02146-3
PMCID:
PMC5725494
AbstractArticlePDF–4.0M
13.
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
14.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
15.
Gene fusions AHRR-NCOA2, NCOA2-ETV4, ETV4-AHRR, P4HA2-TBCK, and TBCK-P4HA2 resulting from the translocations t(5;8;17)(p15;q13;q21) and t(4;5)(q24;q31) in a soft tissue angiofibroma
Ioannis Panagopoulos, Ludmila Gorunova, Trond Viset, Sverre Heim
Oncol Rep. 2016 Nov; 36(5): 2455–2462. Published online 2016 Sep 15. doi: 10.3892/or.2016.5096
PMCID:
PMC5055197
AbstractArticlePDF–828K
16.
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
Elizabeth J. Bhoj, Dong Li, Margaret Harr, Shimon Edvardson, Orly Elpeleg, Elizabeth Chisholm, Jane Juusola, Ganka Douglas, Maria J. Guillen Sacoto, Karine Siquier-Pernet, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Alekhya Narravula, Maria Walke, Michele B. Horner, Debra-Lynn Day-Salvatore, Parul Jayakar, Samantha A. Schrier Vergano, Mark A. Tarnopolsky, Madhuri Hegde, Laurence Colleaux, Peter Crino, Hakon Hakonarson
Am J Hum Genet. 2016 Apr 7; 98(4): 782–788. Published online 2016 Mar 31. doi: 10.1016/j.ajhg.2016.03.016
PMCID:
PMC4833465
AbstractArticlePDF–788K
17.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern-Holmes, Zara Richmond, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Xilma R. Ortiz-Gonzalez, Marco Tartaglia, Maya Chopra, Dan Doherty
Am J Hum Genet. 2016 Apr 7; 98(4): 772–781. Published online 2016 Mar 31. doi: 10.1016/j.ajhg.2016.01.016
PMCID:
PMC4833196
AbstractArticlePDF–1.5M
18.
TBCK Influences Cell Proliferation, Cell Size and mTOR Signaling Pathway
Yueli Liu, Xiaoyi Yan, Tianhua Zhou
PLoS One. 2013; 8(8): e71349. Published online 2013 Aug 19. doi: 10.1371/journal.pone.0071349
PMCID:
PMC3747267
AbstractArticlePDF–6.0M
19.
Genome-Wide Association Studies Identify CHRNA5/3 and HTR4 in the Development of Airflow Obstruction
Jemma B. Wilk, Nick R. G. Shrine, Laura R. Loehr, Jing Hua Zhao, Ani Manichaikul, Lorna M. Lopez, Albert Vernon Smith, Susan R. Heckbert, Joanna Smolonska, Wenbo Tang, Daan W. Loth, Ivan Curjuric, Jennie Hui, Michael H. Cho, Jeanne C. Latourelle, Amanda P. Henry, Melinda Aldrich, Per Bakke, Terri H. Beaty, Amy R. Bentley, Ingrid B. Borecki, Guy G. Brusselle, Kristin M. Burkart, Ting-hsu Chen, David Couper, James D. Crapo, Gail Davies, Josée Dupuis, Nora Franceschini, Amund Gulsvik, Dana B. Hancock, Tamara B. Harris, Albert Hofman, Medea Imboden, Alan L. James, Kay-Tee Khaw, Lies Lahousse, Lenore J. Launer, Augusto Litonjua, Yongmei Liu, Kurt K. Lohman, David A. Lomas, Thomas Lumley, Kristin D. Marciante, Wendy L. McArdle, Bernd Meibohm, Alanna C. Morrison, Arthur W. Musk, Richard H. Myers, Kari E. North, Dirkje S. Postma, Bruce M. Psaty, Stephen S. Rich, Fernando Rivadeneira, Thierry Rochat, Jerome I. Rotter, María Soler Artigas, John M. Starr, André G. Uitterlinden, Nicholas J. Wareham, Cisca Wijmenga, Pieter Zanen, Michael A. Province, Edwin K. Silverman, Ian J. Deary, Lyle J. Palmer, Patricia A. Cassano, Vilmundur Gudnason, R. Graham Barr, Ruth J. F. Loos, David P. Strachan, Stephanie J. London, H. Marike Boezen, Nicole Probst-Hensch, Sina A. Gharib, Ian P. Hall, George T. O’Connor, Martin D. Tobin, Bruno H. Stricker
Am J Respir Crit Care Med. 2012 Oct 1; 186(7): 622–632. Published online 2012 Oct 1. doi: 10.1164/rccm.201202-0366OC
PMCID:
PMC3480517
AbstractArticlePDF–770K
20.
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili
Cell. Author manuscript; available in PMC 2013 Aug 31.
Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011
PMCID:
PMC3477804
AbstractArticlePDF–7.7M

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