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Items: 1 to 20 of 24

1.
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty
J Med Genet. Author manuscript; available in PMC 2017 Jan 1.
Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250
PMCID:
PMC5060087
AbstractArticlePDF–1.6M
2.
Formation of the B9-domain protein complex MKS1–B9D2–B9D1 is essential as a diffusion barrier for ciliary membrane proteins
Misato Okazaki, Takuya Kobayashi, Shuhei Chiba, Ryota Takei, Luxiaoxue Liang, Kazuhisa Nakayama, Yohei Katoh
Mol Biol Cell. 2020 Sep 15; 31(20): 2259–2268. doi: 10.1091/mbc.E20-03-0208
PMCID:
PMC7550698
AbstractArticlePDF–2.5M
3.
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente
Orphanet J Rare Dis. 2014; 9: 72. Published online 2014 May 5. doi: 10.1186/1750-1172-9-72
PMCID:
PMC4113192
AbstractArticlePDF–732K
4.
Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3
Rachaneekorn Tammachote, Cynthia J. Hommerding, Rachel M. Sinders, Caroline A. Miller, Peter G. Czarnecki, Amanda C. Leightner, Jeffrey L. Salisbury, Christopher J. Ward, Vicente E. Torres, Vincent H. Gattone, II, Peter C. Harris
Hum Mol Genet. 2009 Sep 1; 18(17): 3311–3323. Published online 2009 Jun 10. doi: 10.1093/hmg/ddp272
PMCID:
PMC2733821
AbstractArticlePDF–757K
5.
Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton
Helen R. Dawe, Matthew Adams, Gabrielle Wheway, Katarzyna Szymanska, Clare V. Logan, Angelika A. Noegel, Keith Gull, Colin A. Johnson
J Cell Sci. 2009 Aug 1; 122(15): 2716–2726. Published online 2009 Jul 13. doi: 10.1242/jcs.043794
PMCID:
PMC2909318
AbstractArticle
6.
Functional Redundancy of the B9 Proteins and Nephrocystins in Caenorhabditis elegans Ciliogenesis
Corey L. Williams, Marlene E. Winkelbauer, Jenny C. Schafer, Edward J. Michaud, Bradley K. Yoder
Mol Biol Cell. 2008 May; 19(5): 2154–2168. doi: 10.1091/mbc.E07-10-1070
PMCID:
PMC2366840
AbstractArticlePDF–1.4M
7.
Regulation of canonical Wnt signalling by the ciliopathy protein MKS1 and the E2 ubiquitin-conjugating enzyme UBE2E1
Katarzyna Szymanska, Karsten Boldt, Clare V Logan, Matthew Adams, Philip A Robinson, Marius Ueffing, Elton Zeqiraj, Gabrielle Wheway, Colin A Johnson
eLife. 2022; 11: e57593. Published online 2022 Feb 16. doi: 10.7554/eLife.57593
PMCID:
PMC8880992
AbstractArticlePDF–4.6M
8.
The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling
Sarah C. Goetz, Fiona Bangs, Chloe L. Barrington, Nicholas Katsanis, Kathryn V. Anderson
PLoS One. 2017; 12(3): e0173399. Published online 2017 Mar 14. doi: 10.1371/journal.pone.0173399
PMCID:
PMC5349470
AbstractArticlePDF–2.9M
9.
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins
Nathan J. Bialas, Peter N. Inglis, Chunmei Li, Jon F. Robinson, Jeremy D. K. Parker, Michael P. Healey, Erica E. Davis, Chrystal D. Inglis, Tiina Toivonen, David C. Cottell, Oliver E. Blacque, Lynne M. Quarmby, Nicholas Katsanis, Michel R. Leroux
J Cell Sci. 2009 Mar 1; 122(5): 611–624. Published online 2009 Feb 10. doi: 10.1242/jcs.028621
PMCID:
PMC2720918
AbstractArticle
10.
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet. Author manuscript; available in PMC 2014 Feb 4.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
Correction in:
J Med Genet. 2015 Dec; 52(12): 866.
PMCID:
PMC3913043
AbstractArticlePDF–3.0M
11.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque
Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273
PMCID:
PMC5580800
AbstractArticlePDF–2.4M
12.
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms
Ozanna Burnicka-Turek, Jeffrey D. Steimle, Wenhui Huang, Lindsay Felker, Anna Kamp, Junghun Kweon, Michael Peterson, Roger H. Reeves, Cheryl L. Maslen, Peter J. Gruber, Xinan H. Yang, Jay Shendure, Ivan P. Moskowitz
Hum Mol Genet. 2016 Jul 15; 25(14): 3011–3028. Published online 2016 Jun 23. doi: 10.1093/hmg/ddw155
PMCID:
PMC5181596
AbstractArticlePDF–1.1M
13.
AP-SWATH Reveals Direct Involvement of VCP/p97 in Integrated Stress Response Signaling Through Facilitating CReP/PPP1R15B Degradation
Julia Hülsmann, Bojana Kravic, Matthias Weith, Matthias Gstaiger, Ruedi Aebersold, Ben C. Collins, Hemmo Meyer
Mol Cell Proteomics. 2018 Jul; 17(7): 1295–1307. Published online 2018 Mar 29. doi: 10.1074/mcp.RA117.000471
PMCID:
PMC6030730
AbstractArticlePDF–3.8M
14.
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB
Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan
EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698
PMCID:
PMC9433938
AbstractArticlePDF–9.3M
15.
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
16.
RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation
Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117
PMCID:
PMC7322067
AbstractArticlePDF–2.7M
17.
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
18.
A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning
Koray Kırlı, Samir Karaca, Heinz Jürgen Dehne, Matthias Samwer, Kuan Ting Pan, Christof Lenz, Henning Urlaub, Dirk Görlich
eLife. 2015; 4: e11466. Published online 2015 Dec 17. doi: 10.7554/eLife.11466
PMCID:
PMC4764573
AbstractArticlePDF–5.7M
19.
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
20.
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

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