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Items: 16

1.
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65
Elliot H Choi, Susie Suh, Christopher L Sander, Christian J Ortiz Hernandez, Elizabeth R Bulman, Nimesh Khadka, Zhiqian Dong, Wuxian Shi, Krzysztof Palczewski, Philip D Kiser
Hum Mol Genet. 2018 Jul 1; 27(13): 2225–2243. Published online 2018 Apr 12. doi: 10.1093/hmg/ddy128
PMCID:
PMC6005012
AbstractArticlePDF–1.3M
2.
RPE65 and the Accumulation of Retinyl Esters in Mouse Retinal Pigment Epithelium
Colleen Sheridan, Nicholas P. Boyer, Rosalie K. Crouch, Yiannis Koutalos
Photochem Photobiol. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Photochem Photobiol. 2017 May; 93(3): 844–848. doi: 10.1111/php.12738
PMCID:
PMC5673077
AbstractArticlePDF–588K
3.
RPE65 has an additional function as the lutein to meso-zeaxanthin isomerase in the vertebrate eye
Rajalekshmy Shyam, Aruna Gorusupudi, Kelly Nelson, Martin P. Horvath, Paul S. Bernstein
Proc Natl Acad Sci U S A. 2017 Oct 10; 114(41): 10882–10887. Published online 2017 Sep 5. doi: 10.1073/pnas.1706332114
PMCID:
PMC5642693
AbstractArticlePDF–1.1M
4.
Identification of Key Residues Determining Isomerohydrolase Activity of Human RPE65
Yusuke Takahashi, Gennadiy Moiseyev, Jian-xing Ma
J Biol Chem. 2014 Sep 26; 289(39): 26743–26751. Published online 2014 Aug 11. doi: 10.1074/jbc.M114.558619
PMCID:
PMC4175317
AbstractArticlePDF–1.0M
5.
The Rpe65rd12 Allele Exerts a Semidominant Negative Effect on Vision in Mice
Charles B. Wright, Micah A. Chrenek, Wei Feng, Shannon E. Getz, Todd Duncan, Machelle T. Pardue, Yue Feng, T. Michael Redmond, Jeffrey H. Boatright, John M. Nickerson
Invest Ophthalmol Vis Sci. 2014 Apr; 55(4): 2500–2515. Published online 2014 Apr 17. doi: 10.1167/iovs.13-13574
PMCID:
PMC3993890
AbstractArticlePDF–1.7M
6.
Genes and mutations causing retinitis pigmentosa
SP Daiger, LS Sullivan, SJ Bowne
Clin Genet. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 10.1111/cge.12203. Published online 2013 Jun 19. doi: 10.1111/cge.12203
PMCID:
PMC3856531
AbstractArticlePDF–231K
7.
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
Sara J Bowne, Marian M Humphries, Lori S Sullivan, Paul F Kenna, Lawrence C S Tam, Anna S Kiang, Matthew Campbell, George M Weinstock, Daniel C Koboldt, Li Ding, Robert S Fulton, Erica J Sodergren, Denis Allman, Sophia Millington-Ward, Arpad Palfi, Alex McKee, Susan H Blanton, Susan Slifer, Ioanna Konidari, G Jane Farrar, Stephen P Daiger, Peter Humphries
Eur J Hum Genet. 2011 Oct; 19(10): 1074–1081. Published online 2011 Jun 8. doi: 10.1038/ejhg.2011.86
Correction in:
Eur J Hum Genet. 2011 Oct; 19(10): 1109.
PMCID:
PMC3190249
AbstractArticlePDF–641K
8.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
9.
α-Phenyl-N-tert-butylnitrone (PBN) Prevents Light-induced Degeneration of the Retina by Inhibiting RPE65 Protein Isomerohydrolase Activity
Md Nawajes A. Mandal, Gennadiy P. Moiseyev, Michael H. Elliott, Anne Kasus-Jacobi, Xiaoman Li, Hui Chen, Lixin Zheng, Olga Nikolaeva, Robert A. Floyd, Jian-xing Ma, Robert E. Anderson
J Biol Chem. 2011 Sep 16; 286(37): 32491–32501. Published online 2011 Jul 24. doi: 10.1074/jbc.M111.255877
PMCID:
PMC3173208
AbstractArticlePDF–2.6M
10.
Key enzymes of the retinoid (visual) cycle in vertebrate retina
Philip D. Kiser, Marcin Golczak, Akiko Maeda, Krzysztof Palczewski
Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jan 1.
Published in final edited form as: Biochim Biophys Acta. 2012 Jan; 1821(1): 137–151. Published online 2011 Apr 5. doi: 10.1016/j.bbalip.2011.03.005
PMCID:
PMC3158816
AbstractArticlePDF–2.0M
11.
Mouse Model Resources for Vision Research
Jungyeon Won, Lan Ying Shi, Wanda Hicks, Jieping Wang, Ronald Hurd, Jürgen K. Naggert, Bo Chang, Patsy M. Nishina
J Ophthalmol. 2011; 2011: 391384. Published online 2010 Oct 31. doi: 10.1155/2011/391384
PMCID:
PMC2968714
AbstractArticlePDF–5.7M
12.
Transplantation of Reprogrammed Embryonic Stem Cells Improves Visual Function in a Mouse Model for Retinitis Pigmentosa
Nan-Kai Wang, Joaquin Tosi, Jennifer Mie Kasanuki, Chai Lin Chou, Jian Kong, Nancy Parmalee, Katherine J. Wert, Rando Allikmets, Chi-Chun Lai, Chung-Liang Chien, Takayuki Nagasaki, Chyuan-Sheng Lin, Stephen H. Tsang
Transplantation. Author manuscript; available in PMC 2010 Apr 27.
Published in final edited form as: Transplantation. 2010 Apr 27; 89(8): 911–919. doi: 10.1097/TP.0b013e3181d45a61
PMCID:
PMC2855750
AbstractArticlePDF–3.9M
13.
Localizations of visual cycle components in retinal pigment epithelium
Jing Huang, Daniel E. Possin, John C. Saari
Mol Vis. 2009; 15: 223–234. Published online 2009 Jan 26.
PMCID:
PMC2632734
AbstractArticlePDF–28M
14.
Metabolic Basis of Visual Cycle Inhibition by Retinoid and Nonretinoid Compounds in the Vertebrate Retina
Marcin Golczak, Akiko Maeda, Grzegorz Bereta, Tadao Maeda, Philip D. Kiser, Silke Hunzelmann, Johannes von Lintig, William S. Blaner, Krzysztof Palczewski
J Biol Chem. 2008 Apr 11; 283(15): 9543–9554. doi: 10.1074/jbc.M708982200
PMCID:
PMC2441898
AbstractArticlePDF–647K
15.
Recovery of Visual Functions in a Mouse Model of Leber Congenital Amaurosis
J. Preston Van Hooser, Yan Liang, Tadao Maeda, Vladimir Kuksa, Geeng-Fu Jang, Yu-Guang He, Fred Rieke, Henry K. W. Fong, Peter B. Detwiler, Krzysztof Palczewski
J Biol Chem. Author manuscript; available in PMC 2006 May 26.
Published in final edited form as: J Biol Chem. 2002 May 24; 277(21): 19173–19182. Published online 2002 Mar 15. doi: 10.1074/jbc.M112384200
PMCID:
PMC1470660
AbstractArticlePDF–1.5M
16.
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
T. Michael Redmond, Eugenia Poliakov, Shirley Yu, Jen-Yue Tsai, Zhongjian Lu, Susan Gentleman
Proc Natl Acad Sci U S A. 2005 Sep 20; 102(38): 13658–13663. Published online 2005 Sep 6. doi: 10.1073/pnas.0504167102
PMCID:
PMC1224626
AbstractArticlePDF–528K

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