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Items: 1 to 20 of 29

1.
Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
Mei Hong Tan, Alexander J. Smith, Basil Pawlyk, Xiaoyun Xu, Xiaoqing Liu, James B. Bainbridge, Mark Basche, Jenny McIntosh, Hoai Viet Tran, Amit Nathwani, Tiansen Li, Robin R. Ali
Hum Mol Genet. 2009 Jun 15; 18(12): 2099–2114. Published online 2009 Mar 19. doi: 10.1093/hmg/ddp133
Correction in:
Hum Mol Genet. 2010 Feb 15; 19(4): 735.
Correction in:
Hum Mol Genet. 2023 Dec 15; 32(24): 3391–3393.
Correction in:
Hum Mol Genet. 2024 May 15; 33(10): 931–933.
PMCID:
PMC2722233
AbstractArticlePDF–659K
2.
Molecular insights into the maturation of phosphodiesterase 6 by the specialized chaperone complex of HSP90 with AIPL1
Ravi P. Yadav, Kimberly Boyd, Nikolai O. Artemyev
J Biol Chem. 2022 Mar; 298(3): 101620. Published online 2022 Jan 21. doi: 10.1016/j.jbc.2022.101620
PMCID:
PMC8857470
AbstractArticlePDF–1.3M
3.
Succinate Can Shuttle Reducing Power from the Hypoxic Retina to the O2-Rich Pigment Epithelium
Celia M. Bisbach, Daniel T. Hass, Brian M. Robbings, Austin M. Rountree, Martin Sadilek, Ian R. Sweet, James B. Hurley
Cell Rep. Author manuscript; available in PMC 2020 Jun 5.
Published in final edited form as: Cell Rep. 2020 May 5; 31(5): 107606. doi: 10.1016/j.celrep.2020.107606
PMCID:
PMC7273505
AbstractArticlePDF–1.7M
4.
The Musashi 1 Controls the Splicing of Photoreceptor-Specific Exons in the Vertebrate Retina
Daniel Murphy, Benjamin Cieply, Russ Carstens, Visvanathan Ramamurthy, Peter Stoilov
PLoS Genet. 2016 Aug; 12(8): e1006256. Published online 2016 Aug 19. doi: 10.1371/journal.pgen.1006256
Correction in:
PLoS Genet. 2016 Nov; 12(11): e1006432.
PMCID:
PMC4991804
AbstractArticlePDF–11M
5.
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
6.
Early Alteration of Retinal Neurons in Aipl1−/− Animals
Ratnesh Kumar Singh, Saravanan Kolandaivelu, Visvanathan Ramamurthy
Invest Ophthalmol Vis Sci. 2014 May; 55(5): 3081–3092. Published online 2014 May 13. doi: 10.1167/iovs.13-13728
PMCID:
PMC4034756
AbstractArticlePDF–1.8M
7.
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
8.
Gene Therapy with a Promoter Targeting Both Rods and Cones Rescues Retinal Degeneration Caused by AIPL1 Mutations
Xun Sun, Basil Pawlyk, Xiaoyun Xu, Xiaoqing Liu, Oleg Bulgakov, Michael Adamian, Michael A. Sandberg, Shahrokh C. Khani, Mei-Hong Tan, Alexander J. Smith, Robin R. Ali, Tiansen Li
Gene Ther. Author manuscript; available in PMC 2010 Jul 1.
Published in final edited form as: Gene Ther. 2010 Jan; 17(1): 117–131. Published online 2009 Aug 27. doi: 10.1038/gt.2009.104
Retraction in:
Gene Ther. 2024 Nov 15
PMCID:
PMC2804971
AbstractArticle
9.
Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
Visvanathan Ramamurthy, Gregory A. Niemi, Thomas A. Reh, James B. Hurley
Proc Natl Acad Sci U S A. 2004 Sep 21; 101(38): 13897–13902. Published online 2004 Sep 13. doi: 10.1073/pnas.0404197101
PMCID:
PMC518850
AbstractArticlePDF–513K
10.
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
11.
Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client
Kota N. Gopalakrishna, Kimberly Boyd, Ravi P. Yadav, Nikolai O. Artemyev
J Biol Chem. 2016 Jul 29; 291(31): 16282–16291. Published online 2016 Jun 7. doi: 10.1074/jbc.M116.737593
PMCID:
PMC4965576
AbstractArticlePDF–1.8M
12.
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
13.
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
Lindsay T. Kirschman, Saravanan Kolandaivelu, Jeanne M. Frederick, Loan Dang, Andrew F.X. Goldberg, Wolfgang Baehr, Visvanathan Ramamurthy
Hum Mol Genet. 2010 Mar 15; 19(6): 1076–1087. Published online 2009 Dec 30. doi: 10.1093/hmg/ddp571
PMCID:
PMC2830831
AbstractArticlePDF–518K
14.
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
Melanie M. Sohocki, Sara J. Bowne, Lori S. Sullivan, Seth Blackshaw, Constance L. Cepko, Annette M. Payne, Shomi S. Bhattacharya, Shagufta Khaliq, S. Qasim Mehdi, David G. Birch, Wilbur R. Harrison, Frederick F.B. Elder, John R. Heckenlively, Stephen P. Daiger
Nat Genet. Author manuscript; available in PMC 2008 Nov 7.
Published in final edited form as: Nat Genet. 2000 Jan; 24(1): 79–83. doi: 10.1038/71732
PMCID:
PMC2581448
AbstractArticlePDF–612K
15.
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
Xiaoqing Liu, Oleg V. Bulgakov, Xiao-Hong Wen, Michael L. Woodruff, Basil Pawlyk, Jun Yang, Gordon L. Fain, Michael A. Sandberg, Clint L. Makino, Tiansen Li
Proc Natl Acad Sci U S A. 2004 Sep 21; 101(38): 13903–13908. Published online 2004 Sep 13. doi: 10.1073/pnas.0405160101
Correction in:
Proc Natl Acad Sci U S A. 2005 Jan 11; 102(2): 515.
PMCID:
PMC518851
AbstractArticlePDF–528K
16.
Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration
Pasqualina Colella, Carolina Iodice, Umberto Di Vicino, Ida Annunziata, Enrico M. Surace, Alberto Auricchio
Hum Mol Genet. 2011 Jun 1; 20(11): 2251–2262. Published online 2011 Mar 19. doi: 10.1093/hmg/ddr115
PMCID:
PMC3090200
AbstractArticlePDF–399K
17.
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins
Visvanathan Ramamurthy, Melanie Roberts, Focco van den Akker, Gregory Niemi, T. A. Reh, James B. Hurley
Proc Natl Acad Sci U S A. 2003 Oct 28; 100(22): 12630–12635. Published online 2003 Oct 10. doi: 10.1073/pnas.2134194100
PMCID:
PMC240669
AbstractArticlePDF–354K
18.
AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly
Saravanan Kolandaivelu, Jing Huang, James B. Hurley, Visvanathan Ramamurthy
J Biol Chem. 2009 Nov 6; 284(45): 30853–30861. Published online 2009 Sep 16. doi: 10.1074/jbc.M109.036780
PMCID:
PMC2781484
AbstractArticlePDF–973K
19.
Comparative analysis of aryl-hydrocarbon receptor interacting protein-like 1 (Aipl1), a gene associated with inherited retinal disease in humans
Melanie M. Sohocki, Lori S. Sullivan, Dayna L. Tirpak, Stephen P. Daiger
Mamm Genome. Author manuscript; available in PMC 2008 Nov 7.
Published in final edited form as: Mamm Genome. 2001 Jul; 12(7): 566–568. doi: 10.1007/s003350020024
PMCID:
PMC2581445
AbstractArticlePDF–582K
20.
Mouse models of human ocular disease for translational research
Mark P. Krebs, Gayle B. Collin, Wanda L. Hicks, Minzhong Yu, Jeremy R. Charette, Lan Ying Shi, Jieping Wang, Jürgen K. Naggert, Neal S. Peachey, Patsy M. Nishina
PLoS One. 2017; 12(8): e0183837. Published online 2017 Aug 31. doi: 10.1371/journal.pone.0183837
PMCID:
PMC5578669
AbstractArticlePDF–26M

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