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Items: 1 to 20 of 41

1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik
PLoS One. 2011; 6(5): e19458. Published online 2011 May 13. doi: 10.1371/journal.pone.0019458
PMCID:
PMC3094346
AbstractArticlePDF–100K
11.
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
Arlene V. Drack, Rebecca Johnston, Edwin M. Stone
J AAPOS. Author manuscript; available in PMC 2010 Apr 28.
Published in final edited form as: J AAPOS. 2009 Oct; 13(5): 463–465. doi: 10.1016/j.jaapos.2009.08.006
PMCID:
PMC2860791
AbstractArticlePDF–32K
12.
Molecular characterization of Leber congenital amaurosis in Koreans
Moon-Woo Seong, Seong Yeon Kim, Young Suk Yu, Jeong-Min Hwang, Ji Yeon Kim, Sung Sup Park
Mol Vis. 2008; 14: 1429–1436. Published online 2008 Aug 4.
PMCID:
PMC2493025
AbstractArticlePDF–1.2M
13.
Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis – a proteomic study
Henrik Vorum, Morten Østergaard, Greg E Rice, Bent Honoré, Toke Bek
Proteome Sci. 2007; 5: 5. Published online 2007 Feb 27. doi: 10.1186/1477-5956-5-5
PMCID:
PMC1821315
AbstractArticlePDF–970K
14.
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber’s congenital amaurosis
S Heegaard, T Rosenberg, M Preising, J U Prause, T Bek
Br J Ophthalmol. 2003 Aug; 87(8): 980–983. doi: 10.1136/bjo.87.8.980
PMCID:
PMC1771788
AbstractArticlePDF–222K
15.
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
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.
Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population
Yumei Li, Hui Wang, Jianlan Peng, Richard A. Gibbs, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Rui Chen
Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Jun 14.
Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Mar; 50(3): 1336–1343. Published online 2008 Oct 20. doi: 10.1167/iovs.08-2589
PMCID:
PMC2695987
AbstractArticlePDF–1016K
19.
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
20.
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

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