PMC Links for OMIM (Select 180069) - PMC

Select item 64259301.

Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation

Yan Li, Rachel Furhang, Amanda Ray, Todd Duncan, Joseph Soucy, Rashid Mahdi, Vijender Chaitankar, Linn Gieser, Eugenia Poliakov, Haohua Qian, Pinghu Liu, Lijin Dong, Igor B. Rogozin, T. Michael Redmond

Hum Mutat. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Hum Mutat. 2019 Apr; 40(4): 426–443. Published online 2019 Jan 25. doi: 10.1002/humu.23706

PMCID:: PMC6425930

Abstract Article PDF–1.8M

Select item 63141892.

Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa

Ruben Jauregui, Karen Sophia Park, Stephen H. Tsang

Ophthalmic Genet. Author manuscript; available in PMC 2019 Aug 1.

Published in final edited form as: Ophthalmic Genet. 2018 Aug; 39(4): 544–549. doi: 10.1080/13816810.2018.1484929

PMCID:: PMC6314189

Abstract Article PDF–1.8M

Select item 60050123.

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

Abstract Article PDF–1.3M

Select item 56426934.

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

Abstract Article PDF–1.1M

Select item 53893715.

A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice

Younghwa Shin, Gennadiy Moiseyev, Dibyendu Chakraborty, Jian-xing Ma

Am J Pathol. 2017 Mar; 187(3): 517–527. doi: 10.1016/j.ajpath.2016.11.004

PMCID:: PMC5389371

Abstract Article PDF–2.2M

Select item 50182076.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur

Nature. Author manuscript; available in PMC 2017 Feb 17.

Published in final edited form as: Nature. 2016 Aug 18; 536(7616): 285–291. doi: 10.1038/nature19057

PMCID:: PMC5018207

Abstract Article PDF–3.1M

Select item 49010537.

The clinical features of retinal disease due to a dominant mutation in RPE65

Sarah Hull, Rajarshi Mukherjee, Graham E. Holder, Anthony T. Moore, Andrew R. Webster

Mol Vis. 2016; 22: 626–635. Published online 2016 Jun 10.

PMCID:: PMC4901053

Abstract Article PDF–3.6M

Select item 40819348.

Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites

Songhua Li, Tadahide Izumi, Jane Hu, Heather H. Jin, Ahmed-Abdul A. Siddiqui, Samuel G. Jacobson, Dean Bok, Minghao Jin

J Biol Chem. 2014 Jul 4; 289(27): 18943–18956. Published online 2014 May 21. doi: 10.1074/jbc.M114.552117

PMCID:: PMC4081934

Abstract Article PDF–2.7M

Select item 31902499.

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

Abstract Article PDF–641K

Select item 268576110.

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate

Tadao Maeda, Artur V. Cideciyan, Akiko Maeda, Marcin Golczak, Tomas S. Aleman, Samuel G. Jacobson, Krzysztof Palczewski

Hum Mol Genet. 2009 Jun 15; 18(12): 2277–2287. Published online 2009 Apr 1. doi: 10.1093/hmg/ddp163

PMCID:: PMC2685761

Abstract Article PDF–560K

Select item 173558211.

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

S Yzer, L I van den Born, J Schuil, H Kroes, M M van Genderen, F Boonstra, B van den Helm, H Brunner, R Koenekoop, F Cremers

J Med Genet. 2003 Sep; 40(9): 709–713. doi: 10.1136/jmg.40.9.709

PMCID:: PMC1735582

Summary PDF–316K

Select item 150247512.

Nonvisual light responses in the Rpe65 knockout mouse: Rod loss restores sensitivity to the melanopsin system

Susan E. Doyle, Ana Maria Castrucci, Maureen McCall, Ignacio Provencio, Michael Menaker

Proc Natl Acad Sci U S A. 2006 Jul 5; 103(27): 10432–10437. Published online 2006 Jun 20. doi: 10.1073/pnas.0600934103

PMCID:: PMC1502475

Abstract Article PDF–2.1M

Select item 147066013.

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

Abstract Article PDF–1.5M

Select item 119492114.

RPE65 is the isomerohydrolase in the retinoid visual cycle

Gennadiy Moiseyev, Ying Chen, Yusuke Takahashi, Bill X. Wu, Jian-xing Ma

Proc Natl Acad Sci U S A. 2005 Aug 30; 102(35): 12413–12418. Published online 2005 Aug 22. doi: 10.1073/pnas.0503460102

PMCID:: PMC1194921

Abstract Article PDF–537K

Select item 104187215.

The Briard dog: a new animal model of congenital stationary night blindness.

K Narfström, A Wrigstad, S E Nilsson

Br J Ophthalmol. 1989 Sep; 73(9): 750–756. doi: 10.1136/bjo.73.9.750

PMCID:: PMC1041872

Summary Page Browse PDF–1.3M

Select item 38489016.

Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively

Debra A. Thompson, Christina L. McHenry, Yun Li, Julia E. Richards, Mohammad I. Othman, Eberhard Schwinger, Douglas Vollrath, Samuel G. Jacobson, Andreas Gal

Am J Hum Genet. 2002 Jan; 70(1): 224–229. Published online 2001 Nov 27. doi: 10.1086/338455

PMCID:: PMC384890

Abstract Article PDF–156K

Select item 2699817.

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

J. Preston Van Hooser, Tomas S. Aleman, Yu-Guang He, Artur V. Cideciyan, Vladimir Kuksa, Steven J. Pittler, Edwin M. Stone, Samuel G. Jacobson, Krzysztof Palczewski

Proc Natl Acad Sci U S A. 2000 Jul 18; 97(15): 8623–8628. Published online 2000 Jun 27. doi: 10.1073/pnas.150236297

PMCID:: PMC26998

Abstract Article PDF–443K

Select item 1969918.

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Hiroyuki Morimura, Gerald A. Fishman, Sandeep A. Grover, Anne B. Fulton, Eliot L. Berson, Thaddeus P. Dryja

Proc Natl Acad Sci U S A. 1998 Mar 17; 95(6): 3088–3093. doi: 10.1073/pnas.95.6.3088

PMCID:: PMC19699

Abstract Article PDF–313K

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