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Items: 1 to 20 of 31

1.
Phenotype Associated With Mutation in the Recently Identified Autosomal Dominant Retinitis Pigmentosa KLHL7 Gene
Therése Hugosson, James S. Friedman, Vesna Ponjavic, Magnus Abrahamson, Anand Swaroop, Sten Andréasson
Arch Ophthalmol. Author manuscript; available in PMC 2024 Aug 25.
Published in final edited form as: Arch Ophthalmol. 2010 Jun; 128(6): 772–778. doi: 10.1001/archophthalmol.2010.98
PMCID:
PMC11345865
AbstractArticlePDF–1.3M
2.
A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development
Anthony J. Asmar, Shaun R. Abrams, Jenny Hsin, Jason C. Collins, Rita M. Yazejian, Youmei Wu, Jean Cho, Andrew D. Doyle, Samhitha Cinthala, Marleen Simon, Richard H. van Jaarsveld, David B. Beck, Laura Kerosuo, Achim Werner
Nat Commun. 2023; 14: 4499. Published online 2023 Jul 26. doi: 10.1038/s41467-023-40223-y
PMCID:
PMC10371987
AbstractArticlePDF–3.9M
3.
Targeting USP10 induces degradation of oncogenic ANLN in esophageal squamous cell carcinoma
Yu-Fei Cao, Lei Xie, Bei-Bei Tong, Man-Yu Chu, Wen-Qi Shi, Xiang Li, Jian-Zhong He, Shao-Hong Wang, Zhi-Yong Wu, Dan-Xia Deng, Ya-Qi Zheng, Zhi-Mao Li, Xiu-E Xu, Lian-Di Liao, Yin-Wei Cheng, Li-Yan Li, Li-Yan Xu, En-Min Li
Cell Death Differ. 2023 Feb; 30(2): 527–543. Published online 2022 Dec 16. doi: 10.1038/s41418-022-01104-x
PMCID:
PMC9950447
AbstractArticlePDF–8.4M
4.
A Degradation Motif in STAU1 Defines a Novel Family of Proteins Involved in Inflammation
Yulemi Gonzalez Quesada, Luc DesGroseillers
Int J Mol Sci. 2022 Oct; 23(19): 11588. Published online 2022 Sep 30. doi: 10.3390/ijms231911588
PMCID:
PMC9569955
AbstractArticlePDF–2.1M
5.
Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205
PMCID:
PMC9348576
AbstractArticlePDF–3.0M
6.
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
7.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling
Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser
Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151
PMCID:
PMC9105235
AbstractArticlePDF–5.8M
8.
A protein network map of head and neck cancer reveals PIK3CA mutant drug sensitivity
Danielle L. Swaney, Dana J. Ramms, Zhiyong Wang, Jisoo Park, Yusuke Goto, Margaret Soucheray, Neil Bhola, Kyumin Kim, Fan Zheng, Yan Zeng, Michael McGregor, Kari A. Herrington, Rachel O’Keefe, Nan Jin, Nathan K. VanLandingham, Helene Foussard, John Von Dollen, Mehdi Bouhaddou, David Jimenez-Morales, Kirsten Obernier, Jason F. Kreisberg, Minkyu Kim, Daniel E. Johnson, Natalia Jura, Jennifer R. Grandis, J. Silvio Gutkind, Trey Ideker, Nevan J. Krogan
Science. Author manuscript; available in PMC 2022 Apr 13.
Published in final edited form as: Science. 2021 Oct; 374(6563): eabf2911. Published online 2021 Oct 1. doi: 10.1126/science.abf2911
PMCID:
PMC9005332
AbstractArticlePDF–2.0M
9.
A Novel CUL3 Variant causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase activity
Harish E. Chatrathi, Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl, Achim Werner, Prashant Sharma
Hypertension. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Hypertension. 2022 Jan; 79(1): 60–75. Published online 2021 Dec 2. doi: 10.1161/HYPERTENSIONAHA.121.17624
PMCID:
PMC8667186
AbstractArticlePDF–1.6M
10.
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
11.
A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition
Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington
Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331
PMCID:
PMC8045932
AbstractArticlePDF–1.9M
12.
Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation
Bethany Mason, Susanne Flach, Felipe R. Teixeira, Raquel Manzano Garcia, Oscar M. Rueda, Jean E. Abraham, Carlos Caldas, Paul A. W. Edwards, Heike Laman
Cell Mol Life Sci. 2020 Jul; 77(13): 2605–2620. Published online 2019 Sep 27. doi: 10.1007/s00018-019-03306-y
PMCID:
PMC7320043
AbstractArticlePDF–2.5M
13.
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Jr, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Orphanet J Rare Dis. 2019; 14: 295. Published online 2019 Dec 19. doi: 10.1186/s13023-019-1275-2
PMCID:
PMC6924004
AbstractArticlePDF–2.1M
14.
BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression
Lei Yu, Natee Jearawiriyapaisarn, Mary P. Lee, Tomonori Hosoya, Qingqing Wu, Greggory Myers, Kim-Chew Lim, Ryo Kurita, Yukio Nakamura, Anne B. Vojtek, Jean-François Rual, James Douglas Engel
Genes Dev. 2018 Dec 1; 32(23-24): 1537–1549. doi: 10.1101/gad.318436.118
PMCID:
PMC6295165
AbstractArticlePDF–3.5M
15.
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
16.
The human cytoplasmic dynein interactome reveals novel activators of motility
William B Redwine, Morgan E DeSantis, Ian Hollyer, Zaw Min Htet, Phuoc Tien Tran, Selene K Swanson, Laurence Florens, Michael P Washburn, Samara L Reck-Peterson
eLife. 2017; 6: e28257. Published online 2017 Jul 18. doi: 10.7554/eLife.28257
PMCID:
PMC5533585
AbstractArticlePDF–5.9M
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.
Two Distinct Types of E3 Ligases Work in Unison to Regulate Substrate Ubiquitylation
Daniel C. Scott, David Y. Rhee, David M. Duda, Ian R. Kelsall, Jennifer L. Olszewski, Joao A. Paulo, Annemieke de Jong, Huib Ovaa, Arno F. Alpi, J. Wade Harper, Brenda A. Schulman
Cell. Author manuscript; available in PMC 2017 Aug 25.
Published in final edited form as: Cell. 2016 Aug 25; 166(5): 1198–1214.e24. doi: 10.1016/j.cell.2016.07.027
PMCID:
PMC5091668
AbstractArticlePDF–4.2M
19.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M.E. Smit, Ilyas Okur, Koray Boduroglu, Gülen Eda Utine, Esra Kılıç, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch
Am J Hum Genet. 2016 Jul 7; 99(1): 236–245. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.026
Correction in:
Am J Hum Genet. 2018 Apr 5; 102(4): 713.
PMCID:
PMC5005468
AbstractArticlePDF–2.0M
20.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M

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