Results 91 to 100 of about 7,638 (169)

Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65 [PDF]

, 2018
RPE65 is the essential trans-cis isomerase of the classical retinoid (visual) cycle. Mutations in RPE65 give rise to severe retinal dystrophies, most of which are associated with loss of protein function and recessive inheritance.
Kiser, Philip, Susie Suh, Christian J Ortiz Hernandez, Shi, Wuxian, Philip D Kiser, Zhiqian Dong, Palczewski, Krzysztof, Nimesh Khadka, Wuxian Shi, Hernandez, Christian, Bulman, Elizabeth, Sander, Christopher, Krzysztof Palczewski, Choi, Elliot, Christopher L Sander, Suh, Susie, Elliot H Choi, Elizabeth R Bulman, Khadka, Nimesh, Dong, Zhiqian   +19 more
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Aromatic Lipophilic Spin Traps Effectively Inhibit RPE65 Isomerohydrolase Activity

, 2016
We previously showed that RPE65 does not specifically produce 11-cis-retinol only but also 13-cis-retinol, supporting a carbocation or radical cation mechanism of isomerization.
Susan Gentleman (116510), Michael Ayele (2176284), Toral Parikh (2176292), Preethi Chander (2176280), Eugenia Poliakov (116500), T. Michael Redmond (116515), Stephanie Kuo (2176282)   +6 more
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Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

Molecular Vision, 2019
Purpose: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). Methods: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was ...
Zilin Zhong, Feng Rong, Yinghui Dai, Alakezi Yibulayin, Lin Zeng, Jian Liao, Liefeng Wang, Zhihua Huang, Zhenping Zhou, Jianjun Chen   +9 more
doaj  

Immuno-histochemical analysis of rod and cone reaction to RPE65 deficiency in the inferior and superior canine retina.

PLoS ONE, 2014
Mutations in the RPE65 gene are associated with autosomal recessive early onset severe retinal dystrophy. Morphological and functional studies indicate early and dramatic loss of rod photoreceptors and early loss of S-cone function, while L and M cones ...
Daniela Klein, Alexandra Mendes-Madeira, Patrice Schlegel, Fabienne Rolling, Birgit Lorenz, Silke Haverkamp, Knut Stieger   +6 more
doaj   +1 more source

A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation [PDF]

, 2008
PURPOSE. Later onset and progression of retinal dystrophy occur with some RPE65 missense mutations. The functional consequences of the novel P25L RPE65 mutation was correlated with its early-childhood phenotype and compared with other pathogenic missense
Birgit Lorenz, Maria Schambeck, Christoph Friedburg, Markus N Preising, Eugenia Poliakov, T Michael Redmond   +5 more
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Retinal Structure in RPE65-Associated Retinal Dystrophy [PDF]

, 2020
PURPOSE: RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals.
Kumaran, N, Michaelides, M, Larsen, M, Kalitzeos, A, Bainbridge, JWB, Georgiou, M, Ayuso, C, Munier, FL, Tran, HV, Bertelsen, M, Blanco-Kelly, F   +10 more
core  

Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level.

, 2020
The retinal pigment epithelium (RPE) is a monolayer of cobblestone-like epithelial cells that accomplishes critical functions for the retina. Several protocols have been published to differentiate pluripotent stem cells into RPE cells suitable for ...
Kostic, C., Arsenijevic, Y., Gamm, D.M., Udry, F., Decembrini, S., Déglon, N.   +5 more
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Study of the disease mechanism of RPE65 mutations observed in Costa Rican children with retinal dystrophies [PDF]

Background: RPE65 is an important retinoid isomerase in the visual cycle that regenerates 11cis-retinal, the light sensor of the opsin visual pigments essential for initiating phototransduction in the retinal rod and cone photoreceptor neurons in ...
Chang, Angella
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A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan

Frontiers in Medicine
IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital ...
Natsuki Higa, Takaaki Hayashi, Takaaki Hayashi, Kei Mizobuchi, Maki Iwasa, Shingo Kubota, Kazuki Kuniyoshi, Shuhei Kameya, Hiroyuki Kondo, Mineo Kondo, Tadashi Nakano   +10 more
doaj   +1 more source

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

, 2014
Background: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).
During, MJ, Reed Clark, K., Maclaren, Robert, Tolmachova, Tanya, Black, G.C.M., Seabra, Miguel C., Cottriall, Charles L., Groppe, M, Tolmachova, T, Black, Graeme C M, MacLaren, RE, Groppe, Markus, During, M.J., Reed Clark, K, Webster, A.R., Lotery, AJ, Barnard, Alun, Cremers, FPM, Clark, KR, MacLaren, Robert E., Cottriall, C.L., Downes, SM, Webster, AR, Seabra, MC, Cremers, Frans P M, Seymour, Len, Black, GCM, Downes, S.M., Seymour, L, Cottriall, CL, Cremers, F.P.M., Black, G.C., Clark, K., Seabra, M.C., Cremers, F.P., Groppe, M., Barnard, A.R., Barnard, AR, During, Matthew J., Black, GC, Lotery, Andrew J., Downes, Susan M., Seymour, L., Webster, Andrew R., MacLaren, R.E., Downes, Susan, Cremers, FP, Tolmachova, T., Lotery, A.J., Barnard, Alun R.   +49 more
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