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Select item 106705061.

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1

Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins

Cells. 2023 Nov; 12(22): 2662. Published online 2023 Nov 20. doi: 10.3390/cells12222662

PMCID:: PMC10670506

Abstract Article PDF–9.5M

Select item 100741182.

Ubiquitylation of BBSome is required for ciliary assembly and signaling

Francesco Chiuso, Rossella delle Donne, Giuliana Giamundo, Laura Rinaldi, Domenica Borzacchiello, Federica Moraca, Daniela Intartaglia, Rosa Iannucci, Emanuela Senatore, Luca Lignitto, Corrado Garbi, Paolo Conflitti, Bruno Catalanotti, Ivan Conte, Antonio Feliciello

EMBO Rep. 2023 Apr; 24(4): e55571. Published online 2023 Feb 6. doi: 10.15252/embr.202255571

PMCID:: PMC10074118

Abstract Article PDF–6.3M

Select item 97449563.

Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B

Luke Viehl, Daniel J. Wegner, Stanley P. Hmiel, Frances V. White, Sanjay Jain, F. S. Cole, Jennifer A. Wambach

Pediatr Nephrol. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Pediatr Nephrol. 2023 Feb; 38(2): 605–609. Published online 2022 Jun 13. doi: 10.1007/s00467-022-05616-z

PMCID:: PMC9744956

Abstract Article PDF–532K

Select item 87110064.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon

Invest Ophthalmol Vis Sci. 2021 Dec; 62(15): 26. Published online 2021 Dec 23. doi: 10.1167/iovs.62.15.26

PMCID:: PMC8711006

Abstract Article PDF–1.8M

Select item 82624815.

Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons

Liheng Wang, Yang Liu, George Stratigopoulos, Sunil Panigrahi, Lina Sui, Yiying Zhang, Charles A. Leduc, Hannah J. Glover, Maria Caterina De Rosa, Lisa C. Burnett, Damian J. Williams, Linshan Shang, Robin Goland, Stephen H. Tsang, Sharon Wardlaw, Dieter Egli, Deyou Zheng, Claudia A. Doege, Rudolph L. Leibel

J Clin Invest. 2021 Apr 15; 131(8): e146287. Published online 2021 Apr 15. doi: 10.1172/JCI146287

PMCID:: PMC8262481

Abstract Article PDF–10M

Select item 82531696.

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

Clarisse Delvallée, Samuel Nicaise, Manuela Antin, Anne-Sophie Leuvrey, Elsa Nourisson, Carmen C. Leitch, Georgios Kellaris, Corinne Stoetzel, Véronique Geoffroy, Sophie Scheidecker, Boris Keren, Christel Depienne, Joakim Klar, Niklas Dahl, Jean-François Deleuze, Emmanuelle Génin, Richard Redon, Florence Demurger, Koenraad Devriendt, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Sylvie Odent, Nicholas Katsanis, Jean-Louis Mandel, Erica E. Davis, Hélène Dollfus, Jean Muller

Clin Genet. Author manuscript; available in PMC 2021 Jul 2.

Published in final edited form as: Clin Genet. 2021 Feb; 99(2): 318–324. Published online 2020 Nov 14. doi: 10.1111/cge.13878

PMCID:: PMC8253169

Abstract Article PDF–851K

Select item 81650307.

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

Abstract Article PDF–2.2M

Select item 78662848.

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells

Caroline Amalie Brunbjerg Hey, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller

Int J Mol Sci. 2021 Feb; 22(3): 1345. Published online 2021 Jan 29. doi: 10.3390/ijms22031345

PMCID:: PMC7866284

Abstract Article PDF–7.7M

Select item 76135849.

The Bardet-Biedl Syndrome complex component BBS1 controls T cell polarity during immune synapse assembly

Chiara Cassioli, Anna Onnis, Francesca Finetti, Nagaja Capitani, Jlenia Brunetti, Ewoud B Compeer, Veronika Niederlova, Ondrej Stepanek, Michael L Dustin, Cosima T Baldari

J Cell Sci. Author manuscript; available in PMC 2022 Sep 15.

Published in final edited form as: J Cell Sci. 2021 Aug 15; 134(16): jcs258462. Published online 2021 Aug 23. doi: 10.1242/jcs.258462

PMCID:: PMC7613584

Abstract Article PDF–3.4M

Select item 757327710.

The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells

Avishek Prasai, Marketa Schmidt Cernohorska, Klara Ruppova, Veronika Niederlova, Monika Andelova, Peter Draber, Ondrej Stepanek, Martina Huranova

J Biol Chem. 2020 Oct 16; 295(42): 14279–14290. Published online 2020 Aug 5. doi: 10.1074/jbc.RA120.013905

PMCID:: PMC7573277

Abstract Article PDF–4.0M

Select item 694423811.

Proteomic Analysis Reveals a Role for RSK in p120-catenin Phosphorylation and Melanoma Cell-Cell Adhesion

Antoine Méant, Beichen Gao, Geneviève Lavoie, Sami Nourreddine, Flora Jung, Léo Aubert, Joseph Tcherkezian, Anne-Claude Gingras, Philippe P. Roux

Mol Cell Proteomics. 2020 Jan; 19(1): 50–64. Published online 2019 Nov 2. doi: 10.1074/mcp.RA119.001811

PMCID:: PMC6944238

Abstract Article PDF–5.7M

Select item 677813712.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 639365413.

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Héon

Mol Genet Genomic Med. 2019 Feb; 7(2): e00521. Published online 2018 Nov 28. doi: 10.1002/mgg3.521

PMCID:: PMC6393654

Abstract Article PDF–523K

Select item 563060014.

Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism

Giulia Antoniali, Fabrizio Serra, Lisa Lirussi, Mikiei Tanaka, Chiara D’Ambrosio, Shiheng Zhang, Slobodanka Radovic, Emiliano Dalla, Yari Ciani, Andrea Scaloni, Mengxia Li, Silvano Piazza, Gianluca Tell

Nat Commun. 2017; 8: 797. Published online 2017 Oct 6. doi: 10.1038/s41467-017-00842-8

PMCID:: PMC5630600

Abstract Article PDF–2.3M

Select item 553161115.

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

Abstract Article PDF–2.7M

Select item 486917016.

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

Abstract Article PDF–2.0M

Select item 461721117.

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