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Items: 1 to 20 of 31

1.
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors
Anita Waltho, Oliver Popp, Christopher Lenz, Lukas Pluska, Mahil Lambert, Volker Dötsch, Philipp Mertins, Thomas Sommer
Life Sci Alliance. 2024 Aug; 7(8): e202402740. Published online 2024 May 21. doi: 10.26508/lsa.202402740
PMCID:
PMC11109483
AbstractArticlePDF–2.9M
2.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M
3.
Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis
Qianying Zhao, Bocheng Xu, Qinqin Xiang, Yu Tan, Hanbing Xie, Qianqian Gao, Lingyi Wen, He Wang, Mei Yang, Shanling Liu
Mol Genet Genomic Med. 2023 Mar; 11(3): e2124. Published online 2022 Dec 20. doi: 10.1002/mgg3.2124
PMCID:
PMC10009908
AbstractArticlePDF–3.6M
4.
Interactomes of Glycogen Synthase Kinase-3 Isoforms
Kevin W. Cormier, Brett Larsen, Anne-Claude Gingras, James R. Woodgett
J Proteome Res. 2023 Mar 3; 22(3): 977–989. Published online 2023 Feb 13. doi: 10.1021/acs.jproteome.2c00825
PMCID:
PMC9990120
AbstractArticlePDF–3.7M
5.
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
6.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen
BMC Med Genet. 2020; 21: 96. Published online 2020 May 7. doi: 10.1186/s12881-020-01024-y
PMCID:
PMC7204034
AbstractArticlePDF–1.0M
7.
Gain of additional BIRC3 protein functions through 3′UTR-mediated protein complex formation
Shih-Han Lee, Christine Mayr
Mol Cell. Author manuscript; available in PMC 2020 May 16.
Published in final edited form as: Mol Cell. 2019 May 16; 74(4): 701–712.e9. Published online 2019 Apr 1. doi: 10.1016/j.molcel.2019.03.006
PMCID:
PMC6581197
AbstractArticlePDF–2.0M
8.
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis
Jhih-Jie Tsai, Wen-Bin Hsu, Jia-Hua Liu, Ching-Wen Chang, Tang K. Tang
Sci Rep. 2019; 9: 6037. Published online 2019 Apr 15. doi: 10.1038/s41598-019-42577-0
Correction in:
Sci Rep. 2020; 10: 1265.
PMCID:
PMC6465297
AbstractArticlePDF–9.3M
9.
A distal centriolar protein network controls organelle maturation and asymmetry
Lei Wang, Marion Failler, Wenxiang Fu, Brian D. Dynlacht
Nat Commun. 2018; 9: 3938. Published online 2018 Sep 26. doi: 10.1038/s41467-018-06286-y
PMCID:
PMC6158247
AbstractArticlePDF–5.4M
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.
The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance
Irene Ojeda Naharros, Flavia B. Cristian, Jingjing Zang, Matthias Gesemann, Philip W. Ingham, Stephan C. F. Neuhauss, Ruxandra Bachmann-Gagescu
Sci Rep. 2018; 8: 2211. Published online 2018 Feb 2. doi: 10.1038/s41598-018-20489-9
Correction in:
Sci Rep. 2018; 8: 12534.
PMCID:
PMC5797153
AbstractArticlePDF–9.0M
12.
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
13.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
May Christine V Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M Zein, Joseph Snow, Meghana Vemulapalli, James C Mullikin, Camilo Toro, Benjamin D Solomon, John E Niederhuber, NISC Comparative Sequencing Program, William A Gahl, Meral Gunay-Aygun
J Med Genet. Author manuscript; available in PMC 2017 Jul 19.
Published in final edited form as: J Med Genet. 2015 Dec; 52(12): 830–839. Published online 2015 Sep 18. doi: 10.1136/jmedgenet-2015-103316
PMCID:
PMC5517294
AbstractArticlePDF–1.1M
14.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M
15.
Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis
Lei Wang, Kwanwoo Lee, Ryan Malonis, Irma Sanchez, Brian D Dynlacht
eLife. 2016; 5: e12950. Published online 2016 May 5. doi: 10.7554/eLife.12950
PMCID:
PMC4858382
AbstractArticlePDF–2.5M
16.
Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways
Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K. Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T. Taylor, Alex von Kriegsheim
Cell Rep. 2016 Mar 22; 14(11): 2745–2760. Published online 2016 Mar 10. doi: 10.1016/j.celrep.2016.02.043
PMCID:
PMC4805855
AbstractArticlePDF–4.6M
17.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
Louise A Stephen, Hasan Tawamie, Gemma M Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Holger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B Ekici, Lynn McTeir, Amy M Fraser, Emma A Hall, Pleasantine Mill, Nicolas Daudet, Courtney Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G Davey, Hanno J Bolz
eLife. 2015; 4: e08077. Published online 2015 Sep 19. doi: 10.7554/eLife.08077
PMCID:
PMC4641851
AbstractArticlePDF–5.8M
18.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
Caroline Alby, Kevin Piquand, Céline Huber, André Megarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi-Tayeh, Bettina Bessières, Salima El Chehadeh-Djebbar, Nicole Laurent, Laurence Faivre, László Sztriha, Melinda Zombor, Hajnalka Szabó, Marion Failler, Meriem Garfa-Traore, Christine Bole, Patrick Nitschké, Mathilde Nizon, Nadia Elkhartoufi, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Michel Vekemans, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas
Am J Hum Genet. 2015 Aug 6; 97(2): 311–318. doi: 10.1016/j.ajhg.2015.06.003
Correction in:
Am J Hum Genet. 2015 Aug 6; 97(2): 353.
PMCID:
PMC4573270
AbstractArticlePDF–1.4M
19.
KIAA0586 is mutated in Joubert syndrome
Ruxandra Bachmann-Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, University of Washington Center for Mendelian Genomics, Jay Shendure, Dan Doherty
Hum Mutat. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Hum Mutat. 2015 Sep; 36(9): 831–835. Published online 2015 Jul 2. doi: 10.1002/humu.22821
PMCID:
PMC4537327
AbstractArticlePDF–629K
20.
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson
eLife. 2015; 4: e06602. Published online 2015 May 30. doi: 10.7554/eLife.06602
PMCID:
PMC4477441
AbstractArticlePDF–2.5M

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