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Items: 1 to 20 of 41

1.
An inducible CRISPR/Cas9 screen identifies DTX2 as a transcriptional regulator of human telomerase
Zhifen Zhou, Yujing Li, Huimin Xu, Xiaowei Xie, Zibin He, Song Lin, Ruofei Li, Shouheng Jin, Jun Cui, Hai Hu, Feng Liu, Su Wu, Wenbin Ma, Zhou Songyang
iScience. 2022 Feb 18; 25(2): 103813. Published online 2022 Jan 25. doi: 10.1016/j.isci.2022.103813
PMCID:
PMC8844827
AbstractArticlePDF–6.0M
2.
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
3.
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
Almudena Sacristan-Reviriego, Hoang Mai Le, Michalis Georgiou, Isabelle Meunier, Beatrice Bocquet, Anne-Françoise Roux, Chrisostomos Prodromou, James Bainbridge, Michel Michaelides, Jacqueline van der Spuy
Sci Rep. 2020; 10: 17520. Published online 2020 Oct 16. doi: 10.1038/s41598-020-74516-9
PMCID:
PMC7567831
AbstractArticlePDF–3.5M
4.
Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases
Muhammad Rashid, Muhammad Qasim, Rafaqat Ishaq, Shazia Anwer Bukhari, Zureesha Sajid, Usman Ali Ashfaq, Asma Haque, Zubair M. Ahmed
PLoS One. 2020; 15(9): e0239748. Published online 2020 Sep 25. doi: 10.1371/journal.pone.0239748
PMCID:
PMC7518604
AbstractArticlePDF–1.0M
5.
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
6.
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1
Dunja Lukovic, Ana Artero Castro, Koray Dogan Kaya, Daniella Munezero, Linn Gieser, Carlota Davó-Martínez, Marta Corton, Nicolás Cuenca, Anand Swaroop, Visvanathan Ramamurthy, Carmen Ayuso, Slaven Erceg
Sci Rep. 2020; 10: 5426. Published online 2020 Mar 25. doi: 10.1038/s41598-020-62047-2
PMCID:
PMC7096529
AbstractArticlePDF–5.1M
7.
Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor–interacting protein–like 1 with the regulatory Pγ subunit of phosphodiesterase 6
Ravi P. Yadav, Kimberly Boyd, Liping Yu, Nikolai O. Artemyev
J Biol Chem. 2019 Oct 25; 294(43): 15795–15807. Published online 2019 Sep 5. doi: 10.1074/jbc.RA119.010666
PMCID:
PMC6816093
AbstractArticlePDF–2.9M
8.
AIPL1: a specialized chaperone for the phototransduction effector
Ravi P. Yadav, Nikolai O. Artemyev
Cell Signal. Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Cell Signal. 2017 Dec; 40: 183–189. Published online 2017 Sep 20. doi: 10.1016/j.cellsig.2017.09.014
PMCID:
PMC6022367
AbstractArticlePDF–1.2M
9.
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
Almudena Sacristan-Reviriego, James Bellingham, Chrisostomos Prodromou, Annika N Boehm, Annette Aichem, Neruban Kumaran, James Bainbridge, Michel Michaelides, Jacqueline van der Spuy
Hum Mol Genet. 2017 Nov 15; 26(22): 4465–4480. Published online 2017 Aug 26. doi: 10.1093/hmg/ddx334
Correction in:
Hum Mol Genet. 2018 Apr 1; 27(7): 1309.
PMCID:
PMC5886190
AbstractArticlePDF–1.7M
10.
Unique structural features of the AIPL1–FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness
Ravi P. Yadav, Lokesh Gakhar, Liping Yu, Nikolai O. Artemyev
Proc Natl Acad Sci U S A. 2017 Aug 8; 114(32): E6536–E6545. Published online 2017 Jul 24. doi: 10.1073/pnas.1704782114
PMCID:
PMC5559027
AbstractArticlePDF–2.4M
11.
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
12.
The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium
Juan Hidalgo-de-Quintana, Nele Schwarz, Ingrid P. Meschede, Gabriele Stern-Schneider, Michael B. Powner, Ewan E. Morrison, Clare E. Futter, Uwe Wolfrum, Michael E. Cheetham, Jacqueline van der Spuy
PLoS One. 2015; 10(3): e0121440. Published online 2015 Mar 23. doi: 10.1371/journal.pone.0121440
PMCID:
PMC4370678
AbstractArticlePDF–5.9M
13.
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model
Cristy A. Ku, Vince A. Chiodo, Sanford L. Boye, Abigail Hayes, Andrew F.X. Goldberg, William W. Hauswirth, Visvanathan Ramamurthy
Hum Mol Genet. 2015 Feb 1; 24(3): 670–684. Published online 2014 Sep 30. doi: 10.1093/hmg/ddu487
PMCID:
PMC4357806
AbstractArticlePDF–1.3M
14.
AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells
Saravanan Kolandaivelu, Ratnesh K. Singh, Visvanathan Ramamurthy
Hum Mol Genet. 2014 Feb 15; 23(4): 1002–1012. Published online 2013 Oct 9. doi: 10.1093/hmg/ddt496
PMCID:
PMC3900108
AbstractArticlePDF–1009K
15.
Mutational Screening of LCA Genes Emphasizing RPE65 in South Indian Cohort of Patients
Anshuman Verma, Vijayalakshmi Perumalsamy, Shashikant Shetty, Maigi Kulm, Periasamy Sundaresan
PLoS One. 2013; 8(9): e73172. Published online 2013 Sep 16. doi: 10.1371/journal.pone.0073172
PMCID:
PMC3774716
AbstractArticlePDF–192K
16.
Interaction of Aryl Hydrocarbon Receptor-interacting Protein-like 1 with the Farnesyl Moiety
Anurima Majumder, Kota N. Gopalakrishna, Pallavi Cheguru, Lokesh Gakhar, Nikolai O. Artemyev
J Biol Chem. 2013 Jul 19; 288(29): 21320–21328. Published online 2013 Jun 4. doi: 10.1074/jbc.M113.476242
PMCID:
PMC3774400
AbstractArticlePDF–1.5M
17.
A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy
Xin Zhao, YanFan Ren, Xiaohui Zhang, Changxi Chen, Bing Dong, Yang Li
Mol Vis. 2013; 19: 1039–1046. Published online 2013 May 21.
PMCID:
PMC3668702
AbstractArticlePDF–4.8M
18.
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
Mei Hong Tan, Donna S. Mackay, Jill Cowing, Hoai Viet Tran, Alexander J. Smith, Genevieve A. Wright, Arundhati Dev-Borman, Robert H. Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E. MacLaren, Anthony G. Robson, Michael E. Cheetham, Dorothy A. Thompson, Andrew R. Webster, Michel Michaelides, Robin R. Ali, Anthony T. Moore
PLoS One. 2012; 7(3): e32330. Published online 2012 Mar 6. doi: 10.1371/journal.pone.0032330
PMCID:
PMC3295755
AbstractArticlePDF–294K
19.
The Inherited Blindness Protein AIPL1 Regulates the Ubiquitin-Like FAT10 Pathway
John S. Bett, Naheed Kanuga, Emma Richet, Gunter Schmidtke, Marcus Groettrup, Michael E. Cheetham, Jacqueline van der Spuy
PLoS One. 2012; 7(2): e30866. Published online 2012 Feb 7. doi: 10.1371/journal.pone.0030866
PMCID:
PMC3274541
AbstractArticlePDF–652K
20.
Residual Electroretinograms in Young Leber Congenital Amaurosis Patients with Mutations of AIPL1
Mark E. Pennesi, Niamh B. Stover, Edwin M. Stone, Pei-Wen Chiang, Richard G. Weleber
Invest Ophthalmol Vis Sci. 2011 Oct; 52(11): 8166–8173. Published online 2011 Oct 17. doi: 10.1167/iovs.11-8298
PMCID:
PMC3208025
AbstractArticlePDF–2.4M

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