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Items: 1 to 20 of 21

1.
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Anastasiya V. Kosykh, Irina I. Ryumina, Alexandra S. Botkina, Nadezhda A. Evtushenko, Elena B. Zhigmitova, Aleksandra A. Martynova, Nadya G. Gurskaya, Denis V. Rebrikov
Int J Mol Sci. 2024 Mar; 25(5): 2989. Published online 2024 Mar 4. doi: 10.3390/ijms25052989
PMCID:
PMC10931735
AbstractArticlePDF–2.9M
2.
A translation re‐initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
Mathilde C.S.C. Vermeer, Mohammad Al‐Shinnag, Herman H.W. Silljé, Antonio Esquivel Gaytan, Dedee F. Murrell, Julie McGaughran, Wei Melbourne, Timothy Cowan, Peter C. van den Akker, Karin Y. van Spaendonck‐Zwarts, Peter van der Meer, Maria C. Bolling
Br J Dermatol. 2022 Dec; 187(6): 1045–1048. Published online 2022 Sep 9. doi: 10.1111/bjd.21832
PMCID:
PMC10087812
AbstractArticlePDF–4.4M
3.
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
4.
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy
Elena Logli, Elisa Marzuolo, Marco D’Agostino, Libenzio Adrian Conti, Anna Maria Lena, Andrea Diociaiuti, Elena Dellambra, Cristina Has, Valentina Cianfanelli, Giovanna Zambruno, May El Hachem, Alessandra Magenta, Eleonora Candi, Angelo Giuseppe Condorelli
Hum Mol Genet. 2022 Apr 15; 31(8): 1308–1324. Published online 2021 Nov 5. doi: 10.1093/hmg/ddab318
PMCID:
PMC9029237
AbstractArticlePDF–2.3M
5.
Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome
Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson
Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584
PMCID:
PMC8769072
AbstractArticlePDF–2.9M
6.
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
7.
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
8.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
9.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24
Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, Olof Danielsson, Afsoon Fazlinezhad, Yalda Nilipour, Laila Hübbert, Inger Nennesmo, Kittichate Visuttijai, Jaipreet Bharj, Evmorfia Petropoulou, Azza Shoreim, Barbara Vona, Najmeh Ahangari, Marcela Dávila López, Mohammad Doosti, Rakesh Kumar Banote, Reza Maroofian, Malin Edling, Mehdi Taherpour, Henrik Zetterberg, Ehsan Ghayoor Karimiani, Anders Oldfors, Yalda Jamshidi
Hum Mol Genet. 2019 Jun 1; 28(11): 1919–1929. Published online 2019 Feb 1. doi: 10.1093/hmg/ddz032
PMCID:
PMC6812045
AbstractArticlePDF–226M
10.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
AbstractArticlePDF–2.3M
11.
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
12.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility
Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes Schwieger-Briel, Lisa Weibel, Martin Theiler, Dimitra Kiritsi, Hauke Busch, Melanie Boerries, Katariina Hannula-Jouppi, Hannele Heikkilä, Kaisa Tasanen, Daniele Castiglia, Giovanna Zambruno, Cristina Has
Am J Hum Genet. 2016 Dec 1; 99(6): 1395–1404. Published online 2016 Nov 23. doi: 10.1016/j.ajhg.2016.11.005
PMCID:
PMC5142111
AbstractArticlePDF–2.2M
13.
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
14.
Update on the Kelch-like (KLHL) gene family
Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford, James S Friedman
Hum Genomics. 2013; 7(1): 13. Published online 2013 May 15. doi: 10.1186/1479-7364-7-13
PMCID:
PMC3658946
AbstractArticlePDF–1.3M
15.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
16.
Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics
Eric J. Bennett, John Rush, Steven P. Gygi, J. Wade Harper
Cell. Author manuscript; available in PMC 2011 Dec 10.
Published in final edited form as: Cell. 2010 Dec 10; 143(6): 951–965. doi: 10.1016/j.cell.2010.11.017
PMCID:
PMC3008586
AbstractArticlePDF–3.0M
17.
Defining the Human Deubiquitinating Enzyme Interaction Landscape
Mathew E. Sowa, Eric J. Bennett, Steven P. Gygi, J. Wade Harper
Cell. Author manuscript; available in PMC 2010 Jul 23.
Published in final edited form as: Cell. 2009 Jul 23; 138(2): 389–403. Published online 2009 Jul 16. doi: 10.1016/j.cell.2009.04.042
PMCID:
PMC2716422
AbstractArticlePDF–6.1M
18.
The BTB/kelch protein, KRIP6, modulates the interaction of PICK1 with GluR6 kainate receptors
Fernanda Laezza, Timothy J. Wilding, Sunitha Sequeira, Ann Marie Craig, James E. Huettner
Neuropharmacology. Author manuscript; available in PMC 2009 Dec 1.
Published in final edited form as: Neuropharmacology. 2008 Dec; 55(7): 1131–1139. Published online 2008 Jul 23. doi: 10.1016/j.neuropharm.2008.07.021
PMCID:
PMC2685165
AbstractArticlePDF–2.6M
19.
Ubiquitin-mediated proteolysis of HuR by heat shock
Kotb Abdelmohsen, Subramanya Srikantan, Xiaoling Yang, Ashish Lal, Hyeon Ho Kim, Yuki Kuwano, Stefanie Galban, Kevin G Becker, Davida Kamara, Rafael de Cabo, Myriam Gorospe
EMBO J. 2009 May 6; 28(9): 1271–1282. Published online 2009 Mar 26. doi: 10.1038/emboj.2009.67
PMCID:
PMC2683047
AbstractArticlePDF–1.4M
20.
KRIP6: a novel BTB/kelch protein regulating function of kainate receptors
Fernanda Laezza, Timothy J Wilding, Sunitha Sequeira, Françoise Coussen, Xue Zhao Zhang, Rona Hill-Robinson, Christophe Mulle, James E Huettner, Ann Marie Craig
Mol Cell Neurosci. Author manuscript; available in PMC 2008 Apr 1.
Published in final edited form as: Mol Cell Neurosci. 2007 Apr; 34(4): 539–550. Published online 2007 Jan 24. doi: 10.1016/j.mcn.2006.12.003
PMCID:
PMC1939939
AbstractArticlePDF–1.1M

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